Whats Happening

What's happening in the fight to cure Sanfilippo?

"Progress is moving faster than ever before. Children are being treated in clinical trials thanks to funding support. But thousands of kids are still in need, and more breakthrough research can bring a proven treatment and hopeful cure."

Glenn O'Neill, CEO, Cure Sanfilippo Foundation

LOTS HAPPENING. Exciting progress being made.

Research & Grants

Thanks to your incredible support, the Sanfilippo community is pleased to see several potential therapies moving towards human trial. In addition to clinical stage programs, there are several other innovative approaches being developed. With your help these will move into clinical trials for children! 

Review the projects and grants funded by Cure Sanfilippo Foundation.

Fundraising Events

People around the world are hosting fundraising events and peer-to-peer fundraisers to benefit Cure Sanfilippo Foundation’s quest to cure Sanfilippo Syndrome. See what’s coming up that interest you.

See the Events Calendar.

Latest Foundation News

The following are some of the latest happenings at the Foundation. To learn more about how we are working to make and fund progress in the effort to cure Sanfilippo, visit our What We Do page.

March 31: NORD Webinar on COVID-19 and Families w/ Special Needs

March 31: NORD Webinar on COVID-19 and Families w/ Special Needs

Are you a rare patient or caregiver with concerns related to the COVID-19 outbreak? Do you need strategies for coping, staying healthy, and reducing anxiety during this uncertain period? 

NORD (National Organization for Rare Disorders, Inc.) is hosting a special webinar on Tuesday, March 31, at 2:00 p.m. EDT to provide guidance on living with a rare disease and maintaining your physical and mental health in the time of COVID-19. This webinar is perfect for patients, caregivers, advocates, and others.

The webinar will feature Dr. Marshall Summar, Chief, Division of Genetics and Metabolism, and Director of the Rare Disease Institute at Children’s National Hospital; Dr. Bernhard Wiederman, Infectious Disease Specialist at Children’s National Hospital; and Dr. Albert Freedman, Counseling Psychologist and rare parent.

Register for the webinar at: https://globalmeetwebinar.webcasts.com/starthere.jsp?ei=1295204

Read more

How to keep kids occupied and learning while home | Resource List

How to keep kids occupied and learning while home | Resource List

Kids are home. Now what to do with them?

How to keep them occupied, learning, and physically active is on the minds of parents everywhere as we all practice social distancing. Maybe that’s you or someone you know.
We want to help.
You’ve done so much for the families of children with Sanfilippo Syndrome. Time to return the favor!
Here’s a list of 7 wonderful FREE resources to engage kids during this unprecedented period.
The Cincinnati Zoo & Botanical Garden is taking kids on a daily safari right from home. Live each weekday at 3:00 p.m. EDT, each episode highlights an amazing animal and includes a companion activity kids can do from home.
Learn to draw fun illustrations with famous children’s author and illustrator Mo Willems, known for the Pidgeon, Elephant and Piggy, and Knuffle Bunny series.
Livestream performances and access a lineup of digital learning activities and workshops from Atlanta’s Center for Puppetry Arts.
Check out Instagram Live daily at 12:00 p.m. EDT for a reading and drawing tutorial with Pete the Cat creator James Dean.
See the country, right from you home, with virtual tours of these national parks. Perhaps your family can use these to plan a vacation down the road
Day-by-day projects from Scholastic keep kids reading, thinking, and growing. Every day includes four separate learning experiences, each built around a thrilling, meaningful story or video.
Sign up to receive a newsletter every weekday filled with activities and tips to help your kids play and learn at home.
And here’s some more … a link to an unbelievably extensive list of additional options compiled by an Oklahoma television station.
Our thoughts are with you in these uncertain times. Thank you for all that you are doing in your communities as we take each day at a time together.

Read more

Statement on Coronavirus

Statement on Coronavirus

The world is grinding to a halt because of Coronavirus. Except for one thing that continues at the same pace … time. And time is the greatest enemy to children with Sanfilippo Syndrome.

Coronavirus is impacting the Sanfilippo community on a few crucial and intertwined fronts:

1). research/clinical trials;
2). fundraising/financial; and
3). risk of additional illness for children with Sanfilippo.

The significant impact on the first two will undoubtedly delay aggressive progress to find a treatment or cure for this rapidly-degenerative disease, as well as experimental treatments for children. It’s happening already. The third adds increased worry and stress to parents already dealing with the worst imaginable diagnosis for their child.

Some of the ways that Coronavirus is impacting the Sanfilippo community:

  • Planned fundraising events in the immediate days are being evaluated to possibly be postponed or cancelled. Just a few days ago, the Abby’s Alliance 5K in Houston, TX, was cancelled.
  • Fundraising events in the coming weeks and months are in limbo as organizers wait to see the progress of the virus. Among those up in the air are the Super Eliza 5K in Columbia, SC, coming up in April, and other events in May and June.
  • The plan to launch a new viral video campaign in late March, hoping to raise over $1M for Sanfilippo research, has been put on hold because the time is no longer right, based on Coronavirus in the news.
  • In-person meetings with donors are being cancelled, postponed, or being conducted via other means.
  • Research and clinical trials, including enrollment of the Foundation’s sponsored clinical trial treating children to reduce inflammation in the brain, are being put on hold as facilities restrict access and continued concerns about travel exposure.
  • Meetings with regulators, such as the Foundation’s important upcoming meeting with the FDA, are being changed from in-person to virtual settings.
  • Research projects to be funded later in 2020 and 2021 being re-evaluated based on ability to bring in the funding needed.
  • Staff at institutions working on Sanfilippo, including the Foundation, are navigating the disruptions to their lives, such as state-mandated school closures, and how it impacts their ability to work.
  • Children with Sanfilippo Syndrome may be at risk for more severe complications due to conroovirus, particularly those in the more severe stages of Sanfilippo Syndrome.
  • One of the characteristics of Sanfilippo is that children tend to put all sorts of things in their mouth including their hands, which makes it more difficult to keep potential viruses away, particularly the younger more active children with Sanfilippo.
  • For families who have children that take immunosuppressive medications (ie prednisone, tacrolimus, mycophenolate mofetil, and others), please consult with your doctor about any precautions needed for your individual circumstance. Information is quickly changing, so please keep updated on CDC website, and see helpful resources links below.

Like you, we wait to see how far and long the impact of Coronavirus goes. In the meantime, we will continue doing our best to keep the fight to cure Sanfilippo moving forward as fast as possible. We are also working on short term, and longer term impact strategies.

We believe that this pandemic has given many a new and “all too real” perspective on the stresses that come with worrying if your loved ones will remain healthy. It’s just a glimpse into what Sanfilippo parents face every day after diagnosis. We understand that you and your family’s health are the primary concern, as well as your finances. And these should be as these are two of our primary needs in life, and we are right there with you. We hope we ALL can get back to a “new normal” soon.

Through it all, we are incredibly humbled and genuinely thankful for you. Your support – past, present, and future – means everything to us in the ability to maintain progress against this disease. One of our taglines in the past has been “In It Together.” Well we are all truly “in this together” and we will get through it together.

We wish you and your families safety and health throughout these trying times. We truly appreciate you and thank you.

— Cure Sanfilippo Foundation

Resources

Information on Coronavirus

Activities for Kids

There are so many free resources available now in light of the pandemic. Here are just a couple that we enjoyed during our previous period of isolation.

Read more

Amid Coronavirus (COVID-19) outbreak, O’Neills’ 726 days of isolation sparks interest

Amid Coronavirus (COVID-19) outbreak, O’Neills’ 726 days of isolation sparks interest

One Sanfilippo family’s experience relevant to today’s Coronavirus concerns about self isolation


The O’Neill family voluntarily quarantined themselves for 726 days (4 days short of 2 years) a few years ago to avoid a common virus that would have made their daughter Eliza ineligible for a clinical trial that was her one chance at life. The family of four didn’t come in contact with any people directly, or anything people touched, for nearly 2 years.

When the O'Neill family realized the best way to help Eliza qualify for gene therapy was to protect her from contracting a harmless virus, they decided to isolate themselves.

Their story of isolation is unique and relevant at the moment as many people are wondering about voluntary and mandatory quarantines because of Coronavirus (COVID-19) and how to navigate living in isolation.

To help others thinking about isolation because of Coronavirus, to give some perspective, and to also raise awareness of Sanfilippo Syndrome, the O’Neills made themselves available to reporters interested in the family’s experience and strategies for managing work, school, children, etc. while in quarantine.

Their experience has been featured in:

More Information:

The O’Neills’ daughter Eliza has Sanfilippo Syndrome, a terminal, neurodegenerative disease like Alzheimer’s in children. Her only chance at a cure was participating in a clinical trial that uses a common virus to deliver the treatment. If a child has previously had the virus, they are ineligible for the clinical trial because their bodies would be immune.

There were no promises that she would get in the trial. But if she was exposed to virus before the trial happened, she would be instantly excluded. This was the O’Neills’ one shot at a chance for a different life for her. So they took the extraordinary measure of isolating themselves in their house until the clinical trial started and patients were enrolled to make sure she didn’t catch the virus beforehand.

They expected the isolation to last a couple of months. It turned into 726 days. From May 14, 2014, to May 10, 2016. During that time, Glenn worked from home, their son Beckham and Eliza attended school remotely, they continued specialized therapies for Eliza, they had food and supplies delivered to the house, and they made heavy use of technology to stay connected with family and friends. Glenn and Cara also operated Cure Sanfilippo Foundation and raised $2.1 million through a viral video (www.SavingEliza.com) to help fund research to cure Sanfilippo Syndrome, including the clinical trial.

Read more

WILLPower team raises $41,000 in 2020 The Woodlands Marathon Charity Challenge

WILLPower team raises $41,000 in 2020 The Woodlands Marathon Charity Challenge

For the third year, the Byers family has lead the WILLPower marathon and fundraising team to great heights at the 2020 The Woodlands Marathon, including a first-place finish the Charity Challenge.

2020 The Woodlands Marathon - WILLPower Team, Byers family

The Byers family has running in their blood, each one of them loving to run, including 9-year-old Will, who has Sanfilippo Syndrome Type B. So taking on The Woodlands Marathon and using it as an annual opportunity to also raise awareness of and fundraise for Sanfilippo makes perfect sense for the Byers. 

Team WILLPower has won the 2020 The Woodlands Marathon Charity Challenge. For the third straight year! Additionally, Will was the top individual fundraiser overall. And eight people on Team WILLPower finished in the top 20 of fundraisers. Altogether, that earned Cure Sanfilippo Foundation a $5,000 bonus from the 2020 The Woodlands Marathon Charity Challenge. 

2020 The Woodlands Marathon - WILLPower Team, Byers family


Will’s first-place finish came down to the final minutes, with him securing the lead by only handful of dollars. 

“When I tell you that EVERY dollar donated in this Challenge matters, I mean it,” said Valerie Byers, Will’s mom. “Look at that slim margin between 1st and 2nd…this competition gets fierce in the last minutes and we were able to hold strong thanks to all of you!”

The family also participated in the 2020 The Woodlands Marathon races. Valerie laced up for the half marathon. Will and his dad Tim completed the 5K Kids Fun Run with other WILLPower Team members. And Will’s younger sister Samantha was commander of the WILL Power Cheer Tent along the marathon route, inspiring the runners to keep going.

2020 The Woodlands Marathon - WILLPower Team, Byers family

 

Why do the Byers do this and many other fundraising events each year? Valerie explained in a recent Facebook post on the anniversary of the day Will was diagnosed. 

Five years. We’ve now known for 5 years that our son has a terminal condition. That he’s dying. Will is 9 years and 8 months old. We officially have more memories of life with Sanfilippo than of life without it. And that, frankly, sucks. A lot.

We’ve been through a lot in that five years. We’ve rejoiced at being included in a clinical trial. We broke anew when that clinical trial was cancelled. We thrilled at the experiences of a Make-A-Wish trip while simultaneously crying over the fact of why we qualified for it. We were terrified as a sudden and unexpected bout of pneumonia nearly collapsed our son’s lung and then marveled as he mustered the strength to heal. We’ve been strengthened by meeting and connecting with other families only to fall to our knees in tears when their children pass. We’ve screamed and sobbed at old videos where we can hear our child’s voice speaking words and sentences and paragraphs clearly and meaningfully while we currently desperately grab on to any and all utterances he now makes; every beautiful syllable and sound. We grieve for all the dreams we gave up for him, for our family, for our future…but we then find what he can do, what we can do together, and we make new dreams and focus on the miracles that happen in the now and don’t worry about what is to come.

We persevere.

And that’s why we run, why we fundraise. But it’s something we CAN do. Will loves to run and is still capable of running. Ok, how can we use the activity he is able to do and enjoys to do in order to make a difference? We can use it to raise awareness, to raise funds, to push research, to build Will’s legacy. Since Will’s diagnosis, we have often been asked WHY we fundraise. During his time in the enzyme replacement clinical trial, we would be asked, “Why do you need to fundraise if he’s getting treatment?” The answer was a multitude of reasons: because even if the drug works, there’s still a million expensive steps to get it to market; because rare disease gets no funding to expand on this trial; because this trial is not a guarantee, it may not work. Because this trial could be cancelled.

And it was.

It was devastating, to be left again to just sit back and watch our son decline with no intervention. After his trial, we were again asked, “Why do you need to fundraise? Do you think something will come in time for Will to benefit from it?” Again, the answer was a multitude of reasons: because rare disease still doesn’t get funding or attention; because research takes money and you have to start somewhere to get to clinical trial and a viable treatment; because right now there’s NOTHING for him, but what if our fundraising did help create an opportunity for something, anything? Because if we leave the status quo as it is, then nothing changes. Because if we want change, we have to work to create it. Because if we do nothing, then there is nothing. Because if we do something, then maybe there’s a chance, however slight. We’re just working for a CHANCE.

And not just a chance for Will. Here’s the thing. Most children with Sanfilippo Syndrome? They look like each other. Medically speaking, they have a specific facial phenotype that is characteristic of the disease. Personally speaking, they look like cousins. They look like our child. We see Will’s face in their faces. The face that we love so much is shared by so many. We love them. We love them like our own because in a way they ARE our own. They are our children too. So we fundraise for them. Because the kids born now, the babies born next week, next month, next year…they deserve a chance just as much as Will does. And if Will and our family can help give them that chance, then we’re going to do it.

So that’s why we run these crazy races and ask for your support each year. Because we love hearing Will’s name called as he crosses the finish line because it means he’s still here.



He’s still running.

He still has a chance.

So we continue to do our part to help create that chance, for him and for all of the faces in which we see his smile reflected. Thank you for standing next to us, shoulder to shoulder, as we work towards making these dreams realities for our children

We love you, Little Buddy. We’ll never give up.

Read more

Family raises $7,000 for Foundation with annual bowling event

Family raises $7,000 for Foundation with annual bowling event

Levi Ormeroid’s family hosted Strike For A Cure, its first-ever bowling fundraiser in his honor, this past weekend to benefit Cure Sanfilippo Foundation and the event was a massive success. The sold-out event raised more than $7,000 which will help accelerate research to find a treatment or cure for Sanfilippo Syndrome.

2020 Strike For A Cure - Ormeroid Family

Levi, 21, has Sanfilippo Syndrome Type C, and competes annually on the local Special Olympics bowling team. His family decided to turn his enjoyment of the sport into an awareness and fundraising opportunity with the 2020 Strike For A Cure.

“Levi had a great time bowling and being part of all the excitement!” said Christi Ormeroid, Levi’s mom. “We are so thankful for all the support we have had over the years since Levi’s diagnosis.”

Fox6, a local television station, stopped by to help spread awareness of Strike For A Cure by featuring the event.

In addition to bowling, the event had a large silent auction featuring items such as sports memorabilia, recreational equipment, artwork, and sumptuous gift baskets. 

See more pictures from the event on Levis’ Facebook page Levi’s Life, Love, & Laughter


 2020 Strike For A Cure - Ormeroid Family

Read more

I see you, parents of little kids and kids with special needs …

I see you, parents of little kids and kids with special needs …

As her family attended Ash Wednesday Mass today, Valerie Byers thought about what it means to welcome families of all kids, including those with young and boisterous children and those with special needs. The power of including them when they often worry of being unwelcome. 

Her son Will has Sanfilippo Syndrome, a terminal, neurodegenerative disease that is similar to Alzheimer’s disease, but in children, and it makes public outings different than what other families experience. 

She shared her powerful thoughts and encouragement on her family’s Facebook page, WILL Power: Our Journey with Sanfilippo Syndrome.  

Read her post:


Will Byers, February 2020“I see you, parents of little kids and parents of kids with special needs. I see you hesitating to go to church because your kids are loud, unruly, unpredictable, and just straight crazy sometimes. I see you worried to disturb others and wondering if it’s worth the stress you’re going to put yourself through.

Well, listen. If you want to go to church but the only thing holding you back is being worried about their behavior, stop worrying. Because believe you me, there is NO way your children could ever be as much of a disruption as this ‘full of joyful NOISE’ child right here. 🤪 In fact, come to church with us and my child will drown out anything your child says or does, lol!

Seriously though, little children and children with special needs should be welcomed fully as part of their faith communities. Thankfully, we have been mostly fortunate in that respect. If a parent commits to bringing a child to a church service, even knowing the stress that decision entails, they deserve support. So if you are at a service and see someone struggling to keep their child quiet or still, please don’t judge them or give them irritated looks. They are fully aware of what’s happening, TRUST ME. Instead, smile or offer words of support. Tell them you are happy they are there. Because you should be. Church is where all should be welcome, especially loud, joyful bundles of energy with pure souls like this guy.”

Read more

Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

Cara O'Neill and Elise Drake, poster presentation at WORLD Symposium 2020At the WORLD Symposium 2020, Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, and Research Projects Coordinator Elise Drake, PhD, gave a poster presentation entitled “Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome,” on a subset of the findings from the Foundation’s larger Caregiver Preference Study.

The poster presentation reported survey results on caregiver priorities for meaningful treatment benefits for Sanfilippo Syndrome. It drew heavy interest from the patient advocates, scientists, NIH and FDA staff, and industry partners in attendance.

Parent Prioritization 2.7-Handout-PDF image
DOWNLOAD THE POSTER
(as a printable .PDF file)

METHODS

The study used the following methods:
  • A Best-Worst Scaling (BWS) case 1 experiment was conducted via an online survey of caregivers of children with Sanfilippo syndrome.
  • BWS methodology elicits preference weights for different attributes—in this study, features that represent the impact of Sanfilippo syndrome. Features were selected based on previous qualitative research which identified highly-valued treatment targets of Sanfilippo caregivers.
  • Participants completed 12 choice sets to select features that they considered most- and least-important to address in the context of a non-curative therapy. Figure 1 depicts an example of a BWS choice set item.
  • Subgroup analysis was conducted based on child’s age and caregiver ratings of their child’s disease-specific symptoms. Log-odds importance weights were estimated using random-parameters logit for age group (6 or younger vs 7 or older) and stage (early/mid vs later) based on symptom progression. Due to small sample sizes for Sanfilippo syndrome subtypes C and D, only simple scores (i.e., best-worst scores) were calculated for sub-type analysis. Cluster analysis allowed for estimates of a child’s disease stage based on a combination of caregiver-reported cognitive ability, self-feeding ability, and autistic behaviors. 

RESULTS

The poster reported the following results based on insights from 164 caregivers of children and adults with Sanfilippo syndrome from 14 different countries who completed the Best-Worst Scaling item sets.

BWS Results by Child’s Age:
  • Across both age groups, features with highest importance weights were having pain and unsafe behaviors.
  • Hyperactivity and communicating “no” were significantly more important for caregivers of younger children. Trouble getting around, sleep, and unsafe behaviors were significantly more important for caregivers of children aged 7 and older.
BWS Results by Disease Stage:
  • Pain and unsafe behaviors remained the most prioritized features across stage of disease.
  • Caregivers of early/mid-stage children were significantly more likely to prioritize aggressive/impulsive behaviors, paying attention, feeling frustrated, and following directions than caregivers of later stage children.
  • Caregivers of later-stage children prioritized trouble getting around, worry/anxiety, sleep, and sharing feelings, significantly more than caregivers of early/mid-stage children.
BWS Results by Disease Sub-Type:
  • Simple scores reveal caregivers of children with Type A and B similarly prioritized having pain, unsafe behaviors, and feeling unwell.
  • For Type C, caregivers prioritized aggressive/impulsive toward others, not enough sleep, and having pain.

CONCLUSION

Caregivers’ relative treatment priorities reinforce the multi-symptom impacts of Sanfilippo syndrome.

The top set of prioritized features span several domains:
  • Health: pain, sleep, and feeling unwell
  • Behavioral: hyperactivity, unsafe and aggressive/impulsive behaviors
  • Motor: trouble getting around
  • Communication: communicating “no” and sharing feelings back-and-forth
Pain and safety, two areas important to child and family quality of life, were most prioritized. Though there were differences by age and severity that reflect the child’s changing needs and function as the condition progresses, overall caregivers’ priorities for disease stage features were fairly consistent.

Additional research targeting the rarer subtypes C and D may elucidate whether there are distinct treatment priorities of those caregivers.

This study provides insight into caregivers’ treatment priorities that will help inform development of therapeutics. Results here indicate that targeted, non-curative therapies that extend beyond global cognitive ability are highly valued by caregiver participants.
DOWNLOAD THE POSTER
(as a printable .PDF file)



Cara O'Neill with Tiina K. Urv, PhD, Program Director for the NIH's Office of Rare Diseases Research

Cara O’Neill of Cure Sanfilippo Foundation with Tiina K. Urv, PhD, Program Director for the NIH’s Office of Rare Diseases Research.

 Cara O'Neill poster presentation at WORLD Symposium 2020



OUR THANKS

The Foundation is grateful to the parents of children with Sanfilippo syndrome for participating in this study. Additional thanks to the Foundation’s Advisory Committee for its valuable input and to BioMarin, Lysogene, Sobi, and Orchard Therapeutics for their kind funding support.

Contact Us

If you have questions about the Parent Prioritization of Meaningful Treatment Targets presentation, contact Dr. O’Neill at Cara@CureSanfilippoFoundation.org.

Read more

Wells Warriors Wrestling Team, honoring Spencer, headed to state finals

Wells Warriors Wrestling Team, honoring Spencer, headed to state finals

More than 20 years agoCoach Lewia coached Spencer’s Dad, Nate, in wrestling. Today, Coach Lewia coaches the Wells High School Warriors Wrestling Team. And he was ready to do whatever he could.

Coach Lewia told his team of wrestlers about Nate, and that his son, Spencer, had been diagnosed with a rare and fatal genetic disease called Sanfilippo Syndrome, otherwise known as the Childhood Alzheimer’s. There is no treatment or cure YET.



Coach Lewia explained to his team that Spencer’s only chance at life was to raise money to fund the desperately-needed research and clinical trials to find a treatment or cure. And every wrestler was on board to raise as much money as he could. 

The team saw the urgency and how much it meant to their coach, to help Nate’s family and Spencer. Without any hesitation, the high school students joined the race to save Spencer’s life.

AND THE WARRIORS AREN’T SLOWING DOWN

For a third year, the Wells Warriors wrestling team is dedicating its season to helping raise funds for research to cure Sanfilippo Syndrome. To give kids like Spencer back their future. 

Wells Warriors win Class B regional Championship 2020

This past weekend, the Wells Warriors competed in the Regional Finals and won the Class B Regional Championship for the fourth time. Keeping Spencer front of mind as they have all season, the Wells Warriors head to the State Finals.

Support the inspirational commitment of Coach Lewia and the Wells Wrestling team to help Spencer. Make a donation to their fundraising campaign.

Read more

A little sweetness for your Valentine’s Day

A little sweetness for your Valentine’s Day

Happy Valentine’s Day!

Here are some favorite family recipes from several of our partner families as a symbol of our gratitude for you. Enjoy one (or more) of these and think of the warm wishes we’re sending your way.

Byers’ Family Cutout Cookies

3 cups flour
1/2 tsp baking powder
1/8 tsp salt
1 cup butter
1/2 cup sugar
1 egg
2 tsp vanilla

Icing:
1 cup powdered sugar, sifted
1/4 tsp vanilla
Milk (about 1-1/2 tbsp)

Sift together flour, baking powder in salt in a medium bowl. In a large bowl, cream together butter, sugar, egg, and vanilla. Add dry ingredients gradually to wet ingredients. Mix until everything sticks together and bowl comes away clean.

Roll out dough onto a floured surface to 1/8-inch thick and cut out. Place cutouts on ungreased baking sheet.

Bake at 350°F for 8 to 10 minutes. Check often to avoid burning.

To make icing, stir together powdered sugar, vanilla, and enough milk to make a drizzling consistency. Decorate cookies with frosting once they cool.

Super Simon’s Favorite Peanut Butter (Breakfast & Snack) Bars

Super Simon’s Favorite Peanut Butter (Breakfast & Snack) BarsIngredients:
1 1⁄2 cups quick-cooking oats
1⁄2 cup raw almonds (or walnuts)
1⁄4 cup sesame seeds
3 tablespoons chia seeds
1⁄4 cup hemp seeds
1 teaspoon ground cinnamon
1⁄2 teaspoon salt*
1 cup unsweetened, unsalted, creamy peanut butter
1⁄2 cup maple syrup, Grade A
1 teaspoon vanilla extract

  1. Line a 9-by-9-inch square pan with parchment paper with enough over-hang to cover bars completely.
  2. Grind oats in food processor or power blender for a few seconds until oats resemble course powder.
  3. In a large mixing bowl, add ground oats.
  4. Grind almonds (or walnuts) in food processor or power blender for a few seconds until nuts resemble course powder. Add ground nuts to large mixing bowl.
  5. Combine seeds, cinnamon, and salt with oats and nuts.
  6. In a separate smaller bowl, whisk together peanut butter, maple syrup, and vanilla extract until very smooth.
  7. Pour liquid mixture over dry ingredients and, using a wooden spoon, stir until evenly combined.
  8. Transfer the mixture to the prepared pan.
  9. Using the back of a wooden spoon or offset spatula, firmly press the mixture evenly into the pan.
  10. Cover by folding in the two shortest ends of the paper over the mixture, and then the two longest ends.
  11. Refrigerate for at least one hour or overnight.
  12. Gently open the paper and slice into 16 square bars by making three evenly spaced slices in one direction, and then three evenly spaced slices in the opposite direction.
  13. Enjoy immediately with your favorite beverage, or recover with paper and replace in the refrigerator for later. Bars may be placed in a glass storage container in the freezer for longer term storage.

        Cooking Note: *If using salted peanut butter, use only 1⁄4 teaspoon salt.

        Special Note: Super Simon loves his bar sliced into 16 tiny squares and then each gently rolled into balls, so he may easily pop them in his mouth one by one.

        Recipe adapted from: Super-Seedy Granola Bars developed by Alexandra Caspero, MA, RD

        Sarkar’s Apple Dip

        8 oz cream cheese
        1 bag Skor pieces
        1 container carmel fruit dip
        3 tbsp brown sugar
        5 Granny Smith apples

        Mix cream cheese and brown sugar together until smooth. Take mixture and put on serving tray, leaving a few inches around the edge. Melt caramel dip and spread over cream cheese mixture. Add Skor pieces as layer on top of caramel. Surround dip with applies and serve.

        Want to share yours?

        If you would like to submit a favorite recipe from your family for future sharing, please e-mail Katie@CureSanfilippoFoundation.org. 

        Read more

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “There is no such thing as ‘false hope’. Hope Is LOVE ON A MISSION!”


        Cara O'Neill with 2020 Patient Advocate AwardCure Sanfilippo Foundation’s Chief Scientific Officer Cara O’Neill, MD, FAAP, made powerful remarks before the audience of patient advocates, scientists, and industry partners as she accepted the international Patient Advocate Leader award at the WORLD Symposium 2020 on Feb. 11. She spoke about the power of hope and declared that there is no such thing as “false hope.”

        In introducing O’Neill, a pediatrician who has worked in private practice and academic settings and mother of a daughter with Sanfilippo Syndrome, emcee Dr. Chet Whitley noted, “Her uniquely-paired career and life experience have allowed her to bridge gaps between scientists and clinicians, and even industry and families, helping foster patient-centered research and translational paths forward for rare diseases.”

        He went on to say, “Guided by the mission to support creation of treatments and eventual cure for the disease [Sanfilippo Syndrome], she has persisted and been a force in the field … Thank you for what you do, and don’t stop!”

        Taking the stage to accept the honor, O’Neill first thanked the community who together work in making advances for rare diseases and recognized the patients and their families that are the ultimate mission. 

        “It’s really, really such an honor to be recognized among so many amazing advocates that I continue to learn from every day,” said O’Neill. “And among the neuron of this entire conference: the children, the patients, and the parents in the room with very special children. For me, it’s my daughter Eliza.”

        She shared how the WORLD Symposium played a significant role in the Foundation’s founding.

        “The WORLD Symposium, this collection of brilliant scientists and clinicians will always be a part of our beginnings at Cure Sanfilippo Foundation. 

        “After our daughter Eliza was diagnosed with MPS III A about seven years ago, this was the first meeting my husband and I went to. We came to get immersed in science and meet the leaders in the field. And it was a critical first step.”

        The came away from the meeting with an important question.

        “And to be honest, at the time in 2014, we left the meeting feeling like, ‘Why are so few people talking about Sanfilippo’?”

        O’Neill and her husband, Glenn O’Neill, President of Cure Sanfilippo, used this realization to take action.

        “I’m not sure exactly what we expected at the time, but it lit a fire under us to get moving, to serve things up, to raise up the cause for Sanfilippo to anyone that would hear it. And through our Foundation efforts, many people were willing to hear it.”

        And their efforts had wider reaching impact than they ever could have predicted.

        “We never imagined Sanfilippo and our family would be featured on the Today Show, The Doctors TV show, People magazine, media stories around the world.

        “And as if ‘rare disease life’ isn’t bizarre enough, we got to share our wild Sanfilippo story on Inside Edition,” she shared with a chuckle.

        Their efforts and willingness to speak turned into action.

        “But with a lot of help, we were starting to see more and more people now talking about Sanfilippo. In that time, millions of dollars had been raised thanks to families just like us around the country, around the world. Critical dollars to fund Sanfilippo research leading to many meaningful collaborations and advances. All striving for an effective and ultimately approved treatment for all children.”

        The wave of action turned into results, into science that is testing possible therapies for Sanfilippo Syndrome right now.

        “Today, seven years since my first WORLD meeting, it’s a bit surreal to look back and see how much work has taken place in those years. There are now seven therapies for Sanfilippo Syndrome in clinical trials right now and much more science coming along the pipeline that really amazing. It’s remarkable to think that all these trials are happening.”

        Despite the years, O’Neill never forgets the initial feelings that drove her and Glenn to the conference.

        “But being here today, also takes me back to those early days, especially when I meet families like the Barrises and Grace Kerns; I meet those families who are here for the first time. It takes me back – maybe a little too much,” she said with emotion thick in her voice.

        “It takes me back to that utter panic and desperation to do whatever needs to be done to fill in the gaps, to create the right partnerships, and find a way forward to some sort of lifeline for these children. 

        Her work with the Foundation, scientific and clinical community, and industry are an outlet for those feelings. 

        “The past seven years have given me such privilege to work with so many like-minded advocates, Sanfilippo families, researchers, and industry partners who are all trying to move the needle forward. And that helps give me purpose in this tragedy.”

        She praised her family for the support and perspective that they provide her. 

        “I’m lucky also to have a true partner in this work and this ‘rare life,’ and this recognition is as much my husband Glenn’s as it is mine. And also my amazing children, Beckham and Eliza, who show me beautiful really is, despite the heartbreak this disease can bring.”

        Then she spoke powerfully of hope, sharing words that press people to never give up hope because it is what drives action. And, most importantly, that all hope is valuable.

        “My family and this community show every day that ‘hope’ is an action. It is being willing to work toward what might seem impossible. It’s about vision and perseverance.”

        “You see, there is no such thing as ‘false hope.’ Because hope is not conditional upon an outcome. Hope is actually just love on a mission!”

        She closed by again voicing her heartfelt thanks for the others in the room.

        “Thank you all for what you do and for this honor.”

        Her remarks received a standing ovation from the audience of patient advocates, scientist, and industry professionals.


        Read more

        Yahoo! Finance features Foundation’s Chief Science Officer

        Yahoo! Finance features Foundation’s Chief Science Officer

        Headshot of Dr. Cara O'NeillCure Sanfilippo Foundation’s Chief Science Officer Cara O’Neill, MD, FAAP, is at the WORLD Symposium 2020 in Orlando, FL, this week to make an important presentation about an innovative way to approach recording and measuring disease hallmarks post-gene therapy using video-based technology. 

        The PROVide Study uses video capture technology to monitor daily living, motor skills, and events, such as details regarding seizure frequency and length, sleep, stooling, and irritability/agitation. An additional layer of innovation in this study is the use of wearable devices to record additional data.

        Her presentation was included in a recent Yahoo! Finance article.

        Additionally, O’Neill is being awarded the Patient Advocate Leader of the Year at the WORLD Symposium. An honor that recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs.

        To learn more about the PROVide Study, contact the Foundation at Contact@CureSanfilippoFoundation.org.

        Read more

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo Foundation joined 72 other patient- and disease-advocacy organizations in voicing support for a strong national Open Access policy that would guarantee immediate, free access to and full reuse of the results of scientific research that our tax dollars support in a joint letter to the Trump Administration.


        The letter urged the Administration to issue a policy that eliminates the current 12-month
        delay on articles access, and to ensure that articles and supporting data resulting from
        taxpayer funded research be made immediately available under terms and conditions that
        allow their full reuse. 

        The U.S. government funds more than $60 billion in scientific research each year on behalf of the public. Making sure that the results of this research are readily accessible to all citizens will speed the pace of scientific discovery, spur innovation, and, most importantly, give patients and their families hope of finding cures to rare and currently untreatable diseases.

        Read the full letter here.

        The letter was coordinated by Genetic Alliance, a group that engages individuals, families, and communities to transform health.

        Read more

        Thousands raised by local Maine band for Sanfilippo research

        Thousands raised by local Maine band for Sanfilippo research

        Boyz Gone Wild has done it again, raising thousands for research to cure Sanfilippo Syndrome, in honor of a Wells, ME, child. 

        2020 Boyz Gone Wild fundraiser, Wells, ME

        This is the second year Boyz Gone Wild, the self-declared New England’s Ultimate 80s tribute band, has hosted this retro fundraiser in honor of Spencer Smith and his family. 

        The night featured the 80s band Boyz Gone Wild performing, dancing, and raffles, raising $4,000 to benefit Cure Sanfilippo Foundation. 

        The band also gifted Spencer with his own bass guitar.

        2020 Boyz Gone Wild fundraiser, Wells, ME2020 Boyz Gone Wild fundraiser, Wells, ME

        Read more

        Artists bring to life inner superhero of children with Sanfilippo Syndrome

        Artists bring to life inner superhero of children with Sanfilippo Syndrome

        The children and their families who battle Sanfilippo Syndrome have superhero levels of resilience, strength, and courage.

        The Superhero Project brings the superhero within children facing serious illness or disability to life through unique art pieces, and has recently captured the superheros that live inside several children with Sanfilippo Syndrome. 

        Founded in 2016 by Lisa Kollins, The Superhero Project transforms children into superheroes through vibrant posters created by professional artists from around the world. The families are personally interviewed by one of The Superhero Project’s volunteer sidekicks and walked through a series of questions that explore the superhero that lives inside – how they make the world a better place, what they stand for, what tools they need, what they wear, and more. The information is shared with The Project’s professional animators, comic book artists, and graphic designers, who volunteer their time to turn the ideas into reality and create a fully-realized color image of each one-of-a-kind superhero. Each family receives an 11″ X 17″ poster, plus a digital copy. All at no cost to the families. 

        “People often comment that the children, parents, and siblings facing Sanfilipo Syndrome are ‘superheros,’ so it’s incredibly moving to see that sentiment brought to life. And in a way that’s unique and specific to the personality and passions of each child,” said Glenn O’Neill, President of Cure Sanfilippo Foundation and father of Eliza. “These compassionate artists volunteer their talent and time to create superheros and super stories, which lifts the spirits of children with terminal illnesses and of the parents grasping onto HOPE.”

        Recent illustrations bringing to life the inner superhero of children with Sanfilippo Syndrome:

        DRAGON MASTER LUKE
        Illustration of "Dragon Master Luke" by The Superhero ProjectThis adventurous and outgoing superhero has the best sidekick ever – Toothless! Dragon Master Luke soars through the skies, spreading joy wherever he goes. His special intuition shows him who most needs a loving hand to hold, and his magic shovel helps him scoop up happiness to share. They crayons, markers, and paintbrushes in his tool belt help him create beautiful images that inspire people. Of course, most inspiring is Dragon Master Luke himself and his buddy, Toothless. They have lots in common, from their giant smiles to their AFOs. You can’t miss this dynamic duo – giant silent fireworks (to make sure that even kids with sensitivity to noise aren’t bothered) accompany them along their paths. Inspired by Luke (age 7) and created by Miranda Pavelle

        “It’s so incredibly beautiful, and so much Luke! Luke doesn’t have the biggest attention span, but when I showed him the poster, he just stared at it. He loves Toothless and his shovel so much, and I can only imagine what he thought when he saw himself drawn riding his favorite dragon, holding one of his favorite things.” – Luke’s parents

        WILL POWER
        Illustration of "WILL Power" by The Superhero ProjectWith a smile that never quits and a heart that’s never met a stranger, Will Power is the newest superhero on the block! He inspires people to never give up and to be thankful for the blessings we have–big blessings like love and family, and little blessings like the perfect slice of peach pie. He runs with lightening speed wherever he’s needed and doesn’t let a locked door stop him. His magic keys give him the power to enter (or to escape!) any room in the universe. Will Power is happy to meet people, help them and make them smile–the world needs more superheroes with the power to connect people like he does! Inspired by W. (age 9) and created by Sarah Chalek.

        “We are so grateful for the The Superhero Project and the artist for immortalizing our in-home hero and capturing his personality and energy so perfectly! Will was so excited to see himself as a hero!!!” Will’s parents

        FOREVER EMILY
        Illustration of "Forever Emly" by The Superhero ProjectForever Emily carries the power of the whirlwind, the beauty of nature’s branches and the spirit of the stars everywhere she goes. This heart warrior inspires all who meet her with her energy and loving soul – even if she can clear a shelf at Target in seconds, she’s a character you simply must adore. Forever Emily has a collection of water pails that she uses to summon whirlwinds that bring strength to the people around her. She stands for survival; running, climbing and jumping through the night in her sparkly sneakers, free to move and to live in love. Inspired by E. (age 8) and designed by Taryn Cozzy.

        SUPER J

        Illustration of "Super-J" by The Superhero ProjectThe newest superhero in town is sweet and lovable, but don’t be misled – he can destroy a room with his amazing energy in seconds! Super-J is here to remind the world how important friendship is. Protected by his shield and his big moon heart, he’s armed with everything people need to have fun – Uno, friendship bracelets, Goldfish crackers, and more. He flies from place to place with smoke trailing behind. (No flames – safety first!) With the confidence of Buzz Lightyear, the wackiness of Stitch, and a smile that lights up a room, Super-J is ready to grab your hand, make friends, and take you to infinity and beyond! Inspired by J (age 9) and created by his brother and sister. Designed by Eric Angel Pabon

        ELIZA THE INSPIRATIONAL
        Illustration of "Eliza The Inspirational" by The Superhero ProjectPerseverance and strength – that’s what this unique superhero so perfectly exemplifies. Eliza the Inspirational is as powerful and joyful as an Olympic swimmer, with energy to spare. Wearing her striped socks and water shoes, she relies on super-speed running to carry her across the ocean waves she commands with a flick of her wrist. Eliza dares to dream of what seems impossible: a world where every child is happy, healthy, strong and free. Perhaps she knows more than we do, since she sees the future with her magical headband, its aquamarine jewel glowing ethereally. She carries a satchel filled with water books that inspire people with their stories of strength and courage – her beautiful eyes and big smile inspire them too! Inspired by E. (age 9) and designed by Sarah Wilson.

        HENRY, THE HAPPY HAMMER
        Illustration of "Henry, The Happy Hammer" by The Superhero ProjectWhen life gives him lemons, this amazing superhero makes lemonade! Henry – The Happy Hammer zooms from place to place with his canine sidekicks Bailey and Carl hitching a ride. With his courage and strength, he protects his family from foes large and smile, and reminds them to look for the bright side of life. He has an amazing ability to be happy in almost every situation! With a smile as bright as the twinkly stars on his shirt and in the skies, Henry – The Happy Hammer will laugh his way right into your heart. Created by H. (age 5) and designed by Jen Davreux.
        SETHY MAN
        Sethy Man, illustration by The Superhero ProjectBringing joy, hope, and love to the world is Sethy Man, a new superheor with a big heart, a beautiful smile, and the best laugh you’ll ever hear. He soars above the clouds on his sidekick Bernoulli, wearing his signature purple suit and cape. Sethy Man carries his blue iPad and, with just a point of his finger, can make iPads appear in a pop of glitter for every child he encounters. These everlasting iPads (no dead batteries ever!) are loaded with everyone’s favorite Disney movies that are guaranteed to make people happy. Sethy Man’s laid-back and chill personality puts everyone at ease and, for thsoe who need some extra comfort, he simply holds their hands. He just loves making people smile. Inspired by Seth, age 8, and designed by Miranda Pavelle.
        Super Rylan
        Super Rylan, The Superhero Project illustrationAs sweet as a country love song and as tough as an all-weather ATV, Super Rylan uses the power of music to bring hope and joy to everyone he meets. From the tips of his Ariat boots to the top of his cowboy hat, he lights up the world with his unconditional love. His guitar plays tunes without strumming and his magic iPhone lets people watch YouTube music videos of their favorite songs on command. Once you meet Super Rylan (Goo to his family and friends), you’ll never listen to country music without thinking of him – and without smiling – again! Inspired by Rylan (age 9) and designed by Haley Pak.

        Read more

        Meglio Knives donating 10% of premium knives to benefit Sanfilippo

        Meglio Knives donating 10% of premium knives to benefit Sanfilippo

        Meglio Knives in San Diego, CA, is known for making the best culinary, chef, utility, paring, and tactical knives from military-grade materials. These premium knives are used by some of the best chefs in the world, as well as home cooks who want an exceptional experience with flair and innovation.

        CEO and Founder Brandon Hampton has decided to use their quality knives to make an impact in the Sanfilippo community. He is donating 10% of EVERY KNIFE that is sold in the next run of its preorder 10-inch chef knives to Cure Sanfilippo Foundation.

        “As a parent, it’s really tough seeing what they have to go through. I wouldn’t wish it on anyone. And I’m excited to be a part of trying to make these parents and kids’ lives better,” said Brandon in his Facebook video announcing this special run of knives.




        Knives are now available for pre-order and orders will likely ship by the end of April. There’s no limit to the number that will be sold benefiting the Foundation.
        All of Meglio’s materials are American made. All of its vendors are located in America. And all of the labor is done in America.

        Meglio Knives has done promotions to benefit others in need previously. However, Cure Sanfilippo Foundation is the first charitable organization the knife maker has chosen to benefit. 

        “We are very honored to have Brandon and Meglio Knives support the fight to cure Sanfilippo Syndrome,” said Glenn O’Neill, President of Cure Sanfilippo Foundation. “These exceptional knives will last for generations, as will their impact in helping accelerate research to cure Sanfilippo Syndrome. A cure is even closer because of Meglio Knives and its customers.”

        Before beginning Meglio Knives, Brandon worked with the mother of Emmy, who has Sanfilippo Syndrome. Their families have remained friends, and that friendship inspired Brandon to find a way to help.

        Read more

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Cure Sanfilippo Foundation has an ambitious plan for the next three years:

        5 clinical trials, treating 100 children, to prove at least 1 effective treatment

        Amazing things have happened in the six years since the Foundation was created because of the generosity of tens of thousands of people and the hard work of families and friends of children with Sanfilippo around the world. 

        So much progress toward a cure has been made. But there still isn’t an approved treatment or cure at this time. Yet.

        We have an ambitious plan to bring more clinical trials to children in the next three years. AND YOU CAN HELP MAKE IT HAPPEN.

        The Three-Year Plan:

        By driving the pace of science, we will find a cure in this lifetime.

        The remarkable support, progress, and need inspired the Foundation to create an audacious plan for the next three years. Because the supporters and families have proven that achieving bold goals is possible.

        Clinical trials are where the rubber meets the road, scientifically. It’s the crucial step of determining
        whether earlier research is able to show the same therapeutic benefits in people.


        Three-Year Plan - Element - Image Three-Year Plan - Element - Image Three-Year Plan - Element - Image


        There are no shortcuts in science.

        A cure requires significant resources. The daring price tag for this initiative is $10 million.

        It’s a big goal. But it can happen with support.

        Despite these dramatic costs, Cure Sanfilippo Foundation is finding
        innovative and collaborative ways to support and conduct clinical trials, as
        well as research.

        These strategies make your donations go further. It makes $10 million help even more children, and with an effective treatment, potentially thousands.

        The Future You Give Back

        With a cure, families like these can dream of the future again.

        The Burroughs Family The O'Neill Family

        How You Can Help

        Your support, now and tomorrow, gives children the chance at life.

        Every donation is deeply appreciated. And a multi-year commitment ensure the Foundation can achieve this plan to bring about these clinical trials in three years.

        Donate Now button


        About the Foundation

        Cure Sanfilippo Foundation leads in driving research to accelerate discovery of a cure for Sanfilippo Syndrome.
        In just six years, generous donors like you have enabled Cure Sanfilippo to generate more than $8 million through grassroots and viral fundraising to support and/or architect 20+ research projects globally, including several clinical trials.
        The Foundation’s exceptional thought-leadership enables us to chart a progressive course to find a cure.

        Read more

        Sanfilippo girl coronated as Princess Rose, fulfilling her wish

        Sanfilippo girl coronated as Princess Rose, fulfilling her wish

        Rose Mendoza, coronation 2020 Tournament of RosesRose Mendoza has always loved princesses, especially the part where you wave regally to your subjects.

        Rose also has Sanfilippo Syndrome, a terminal children’s disease likened to Alzheimer’s in children.

        Volunteer members of the Tournament of Roses volunteer and the 2020 Royal Court worked with Make-A-Wish Greater Los Angeles to fulfill Rose’s dream of being a princess, complete with a magical royal coronation. 

        The wish-made-real had several special moments for Rose and her family. 

        In late October, Rose was crowned “Princess for the Day” and enjoyed a day of delights. 

        As described by Make-A-Wish Greater Los Angeles … “On a gorgeous, sunny day in Pasadena this October, the community came out in droves for the coronation of Princess Rose. She was welcomed by the Royal Court, including Rose Queen Camille who gave her a royal makeover, complete with custom princess dresses for Rose and her sister. Then Rose was showered with Frozen-themed princess gifts (her favorite!) before she was whisked off to a tea party complete with rose-infused tea from the famed Langham Hotel and all the sweet treats she could eat. The sound of trumpets beckoned her to the front stairs of the historic Tournament House, where she was surprised to find hundreds of well-wishers who came out with signs to cheer her on. Here she was fitted with her new crown and coronated as Princess Rose of Pasadena. A Pasadena Police Officer even served as her Prince Charming and escorted her to a horse-drawn carriage, which drove her around the kingdom of Pasadena. Rose squealed in excitement the entire day and sang along to her favorite songs while waving to her royal subjects.”





        The coronation was featured in The Pasadena Star:

        Suffering from ‘childhood Alzheimer’s,’ this Covina 6-year-old became a Rose Princess for a day



        In addition to the amazing coronation, Rose rode in the La Puenta Holiday Parade in a vintage sports car and the Covina and Glendora Christmas Parades. Proudly wearing her tiara and sash, of course.

        Rose Mendoza in local 2019 holiday parade

        On Jan. 1 of the New Year, Rose and her family enjoyed front-row seats at the 2020 Rose Parade. Rose and her family delighted at seeing the marching bands, flower-covered floats, and performers up close. She especially enjoyed the float depicting the parade’s theme of “The Power of Hope.”

        Rose Mendoza at 2020 Rose Parade

        Rose Mendoza at 2020 Rose Parade

        This special honor recently sparked a conversation about wishes between Rose’s big sister and mom Muna, which she shared as a letter to Rose on Facebook:

        “Your sister asked me the other day what my ‘make-a-wish’ would be. Well, I didn’t tell her because I thought I’d be too much for 7-year-old heart to take. My wish would be for a cure for this cruel disease. A cure not only for you, but for every kiddo, every family suffering watching their child die right now! It might not have been to much for your sister because she said, ‘I’d wish for a time machine to go into the future get the cure for Sanfilippo and bring it back.’ She knows that a cure will come one day. Rose, you have a whole community around you advocating and praying that future cure comes soon. No matter what the future holds, you will always be our Princess. I know no matter how your life goes, you’ll always be rocking on. We love you more than we could ever say.”

        Read more

        Foundation-supported Anakinra clinical trial listed as “recruiting”

        Foundation-supported Anakinra clinical trial listed as “recruiting”

        As a collaborator on this study, Cure Sanfilippo Foundation is thrilled to announce the MPSIII (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on ClinicalTrials.gov.

        This is an option for any Type of Sanfilippo (A, B, C, D).

        Read the full listing at https://clinicaltrials.gov/ct2/show/NCT04018755.

        Study Description

        Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.

        Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that Anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III.

        The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement, and fatigue.

        However, there is no guarantee that participants will get any benefit from being in this study.

        Study Contact Information


        If interested, please contact the Clinical Trial site, Lundquist Institute (formerly LA Biomed). All contact details can be found at link below.

        If you have any questions for the study collaborator, Cure Sanfilippo Foundation, e-mail Contact@CureSanfilippoFoundation.org./.

        Read more

        Sanfilippo child featured on St. Louis billboards this holiday season

        Sanfilippo child featured on St. Louis billboards this holiday season

        If you are driving around the greater St. Louis area, there’s the chance that you might see the face of Carson Burroughs. 

        OutFront Media featured Carson and the fight to cure Sanfilippo Syndrome on multiple billboards this holiday season.

        According to Carson’s mom Sara, “He wasn’t sure what to think when he saw his face up on the billboard!”

        Billboard in St. Louis, MO, featuring Carson Burroughs

        Billboard in St. Louis, MO, featuring Carson Burroughs

        The week of Dec. 16, Carson was appearing on the billboards at
        270 & McDonnell, Lindbergh & Tesson, and Hwy 94 & Jungs Station. The will continue running the following week and possibly on more billboards.

        Carson has Sanfilippo Syndrome Type A and he and his family live in O’Fallon, MO, a suburb of St. Louis. You can read his family’s words about how Sanfilippo has impacted their lives.

        Thank you to OutFront Media for bringing awareness to Sanfilippo Syndrome and efforts to find a cure.

        UPDATE:
        In late December, OutFront Media added three more billboards featuring Carson in the greater St. Louis area. This brings the total number of billboards featuring Carson to six during the holiday season.

        Again, many, many thanks to OutFront Media for their generosity and willingness to spotlight a rare disease.

        Read more



        Science & Research News

        Updates from entities conducting scientific research into Sanfilippo Syndrome. These updates are not limited to projects supported by the Foundation.

        Statement on Coronavirus

        Statement on Coronavirus

        The world is grinding to a halt because of Coronavirus. Except for one thing that continues at the same pace … time. And time is the greatest enemy to children with Sanfilippo Syndrome.

        Coronavirus is impacting the Sanfilippo community on a few crucial and intertwined fronts:

        1). research/clinical trials;
        2). fundraising/financial; and
        3). risk of additional illness for children with Sanfilippo.

        The significant impact on the first two will undoubtedly delay aggressive progress to find a treatment or cure for this rapidly-degenerative disease, as well as experimental treatments for children. It’s happening already. The third adds increased worry and stress to parents already dealing with the worst imaginable diagnosis for their child.

        Some of the ways that Coronavirus is impacting the Sanfilippo community:

        • Planned fundraising events in the immediate days are being evaluated to possibly be postponed or cancelled. Just a few days ago, the Abby’s Alliance 5K in Houston, TX, was cancelled.
        • Fundraising events in the coming weeks and months are in limbo as organizers wait to see the progress of the virus. Among those up in the air are the Super Eliza 5K in Columbia, SC, coming up in April, and other events in May and June.
        • The plan to launch a new viral video campaign in late March, hoping to raise over $1M for Sanfilippo research, has been put on hold because the time is no longer right, based on Coronavirus in the news.
        • In-person meetings with donors are being cancelled, postponed, or being conducted via other means.
        • Research and clinical trials, including enrollment of the Foundation’s sponsored clinical trial treating children to reduce inflammation in the brain, are being put on hold as facilities restrict access and continued concerns about travel exposure.
        • Meetings with regulators, such as the Foundation’s important upcoming meeting with the FDA, are being changed from in-person to virtual settings.
        • Research projects to be funded later in 2020 and 2021 being re-evaluated based on ability to bring in the funding needed.
        • Staff at institutions working on Sanfilippo, including the Foundation, are navigating the disruptions to their lives, such as state-mandated school closures, and how it impacts their ability to work.
        • Children with Sanfilippo Syndrome may be at risk for more severe complications due to conroovirus, particularly those in the more severe stages of Sanfilippo Syndrome.
        • One of the characteristics of Sanfilippo is that children tend to put all sorts of things in their mouth including their hands, which makes it more difficult to keep potential viruses away, particularly the younger more active children with Sanfilippo.
        • For families who have children that take immunosuppressive medications (ie prednisone, tacrolimus, mycophenolate mofetil, and others), please consult with your doctor about any precautions needed for your individual circumstance. Information is quickly changing, so please keep updated on CDC website, and see helpful resources links below.

        Like you, we wait to see how far and long the impact of Coronavirus goes. In the meantime, we will continue doing our best to keep the fight to cure Sanfilippo moving forward as fast as possible. We are also working on short term, and longer term impact strategies.

        We believe that this pandemic has given many a new and “all too real” perspective on the stresses that come with worrying if your loved ones will remain healthy. It’s just a glimpse into what Sanfilippo parents face every day after diagnosis. We understand that you and your family’s health are the primary concern, as well as your finances. And these should be as these are two of our primary needs in life, and we are right there with you. We hope we ALL can get back to a “new normal” soon.

        Through it all, we are incredibly humbled and genuinely thankful for you. Your support – past, present, and future – means everything to us in the ability to maintain progress against this disease. One of our taglines in the past has been “In It Together.” Well we are all truly “in this together” and we will get through it together.

        We wish you and your families safety and health throughout these trying times. We truly appreciate you and thank you.

        — Cure Sanfilippo Foundation

        Resources

        Information on Coronavirus

        Activities for Kids

        There are so many free resources available now in light of the pandemic. Here are just a couple that we enjoyed during our previous period of isolation.

        Read more

        Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

        Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

        Cara O'Neill and Elise Drake, poster presentation at WORLD Symposium 2020At the WORLD Symposium 2020, Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, and Research Projects Coordinator Elise Drake, PhD, gave a poster presentation entitled “Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome,” on a subset of the findings from the Foundation’s larger Caregiver Preference Study.

        The poster presentation reported survey results on caregiver priorities for meaningful treatment benefits for Sanfilippo Syndrome. It drew heavy interest from the patient advocates, scientists, NIH and FDA staff, and industry partners in attendance.

        Parent Prioritization 2.7-Handout-PDF image
        DOWNLOAD THE POSTER
        (as a printable .PDF file)

        METHODS

        The study used the following methods:
        • A Best-Worst Scaling (BWS) case 1 experiment was conducted via an online survey of caregivers of children with Sanfilippo syndrome.
        • BWS methodology elicits preference weights for different attributes—in this study, features that represent the impact of Sanfilippo syndrome. Features were selected based on previous qualitative research which identified highly-valued treatment targets of Sanfilippo caregivers.
        • Participants completed 12 choice sets to select features that they considered most- and least-important to address in the context of a non-curative therapy. Figure 1 depicts an example of a BWS choice set item.
        • Subgroup analysis was conducted based on child’s age and caregiver ratings of their child’s disease-specific symptoms. Log-odds importance weights were estimated using random-parameters logit for age group (6 or younger vs 7 or older) and stage (early/mid vs later) based on symptom progression. Due to small sample sizes for Sanfilippo syndrome subtypes C and D, only simple scores (i.e., best-worst scores) were calculated for sub-type analysis. Cluster analysis allowed for estimates of a child’s disease stage based on a combination of caregiver-reported cognitive ability, self-feeding ability, and autistic behaviors. 

        RESULTS

        The poster reported the following results based on insights from 164 caregivers of children and adults with Sanfilippo syndrome from 14 different countries who completed the Best-Worst Scaling item sets.

        BWS Results by Child’s Age:
        • Across both age groups, features with highest importance weights were having pain and unsafe behaviors.
        • Hyperactivity and communicating “no” were significantly more important for caregivers of younger children. Trouble getting around, sleep, and unsafe behaviors were significantly more important for caregivers of children aged 7 and older.
        BWS Results by Disease Stage:
        • Pain and unsafe behaviors remained the most prioritized features across stage of disease.
        • Caregivers of early/mid-stage children were significantly more likely to prioritize aggressive/impulsive behaviors, paying attention, feeling frustrated, and following directions than caregivers of later stage children.
        • Caregivers of later-stage children prioritized trouble getting around, worry/anxiety, sleep, and sharing feelings, significantly more than caregivers of early/mid-stage children.
        BWS Results by Disease Sub-Type:
        • Simple scores reveal caregivers of children with Type A and B similarly prioritized having pain, unsafe behaviors, and feeling unwell.
        • For Type C, caregivers prioritized aggressive/impulsive toward others, not enough sleep, and having pain.

        CONCLUSION

        Caregivers’ relative treatment priorities reinforce the multi-symptom impacts of Sanfilippo syndrome.

        The top set of prioritized features span several domains:
        • Health: pain, sleep, and feeling unwell
        • Behavioral: hyperactivity, unsafe and aggressive/impulsive behaviors
        • Motor: trouble getting around
        • Communication: communicating “no” and sharing feelings back-and-forth
        Pain and safety, two areas important to child and family quality of life, were most prioritized. Though there were differences by age and severity that reflect the child’s changing needs and function as the condition progresses, overall caregivers’ priorities for disease stage features were fairly consistent.

        Additional research targeting the rarer subtypes C and D may elucidate whether there are distinct treatment priorities of those caregivers.

        This study provides insight into caregivers’ treatment priorities that will help inform development of therapeutics. Results here indicate that targeted, non-curative therapies that extend beyond global cognitive ability are highly valued by caregiver participants.
        DOWNLOAD THE POSTER
        (as a printable .PDF file)



        Cara O'Neill with Tiina K. Urv, PhD, Program Director for the NIH's Office of Rare Diseases Research

        Cara O’Neill of Cure Sanfilippo Foundation with Tiina K. Urv, PhD, Program Director for the NIH’s Office of Rare Diseases Research.

         Cara O'Neill poster presentation at WORLD Symposium 2020



        OUR THANKS

        The Foundation is grateful to the parents of children with Sanfilippo syndrome for participating in this study. Additional thanks to the Foundation’s Advisory Committee for its valuable input and to BioMarin, Lysogene, Sobi, and Orchard Therapeutics for their kind funding support.

        Contact Us

        If you have questions about the Parent Prioritization of Meaningful Treatment Targets presentation, contact Dr. O’Neill at Cara@CureSanfilippoFoundation.org.

        Read more

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “There is no such thing as ‘false hope’. Hope Is LOVE ON A MISSION!”


        Cara O'Neill with 2020 Patient Advocate AwardCure Sanfilippo Foundation’s Chief Scientific Officer Cara O’Neill, MD, FAAP, made powerful remarks before the audience of patient advocates, scientists, and industry partners as she accepted the international Patient Advocate Leader award at the WORLD Symposium 2020 on Feb. 11. She spoke about the power of hope and declared that there is no such thing as “false hope.”

        In introducing O’Neill, a pediatrician who has worked in private practice and academic settings and mother of a daughter with Sanfilippo Syndrome, emcee Dr. Chet Whitley noted, “Her uniquely-paired career and life experience have allowed her to bridge gaps between scientists and clinicians, and even industry and families, helping foster patient-centered research and translational paths forward for rare diseases.”

        He went on to say, “Guided by the mission to support creation of treatments and eventual cure for the disease [Sanfilippo Syndrome], she has persisted and been a force in the field … Thank you for what you do, and don’t stop!”

        Taking the stage to accept the honor, O’Neill first thanked the community who together work in making advances for rare diseases and recognized the patients and their families that are the ultimate mission. 

        “It’s really, really such an honor to be recognized among so many amazing advocates that I continue to learn from every day,” said O’Neill. “And among the neuron of this entire conference: the children, the patients, and the parents in the room with very special children. For me, it’s my daughter Eliza.”

        She shared how the WORLD Symposium played a significant role in the Foundation’s founding.

        “The WORLD Symposium, this collection of brilliant scientists and clinicians will always be a part of our beginnings at Cure Sanfilippo Foundation. 

        “After our daughter Eliza was diagnosed with MPS III A about seven years ago, this was the first meeting my husband and I went to. We came to get immersed in science and meet the leaders in the field. And it was a critical first step.”

        The came away from the meeting with an important question.

        “And to be honest, at the time in 2014, we left the meeting feeling like, ‘Why are so few people talking about Sanfilippo’?”

        O’Neill and her husband, Glenn O’Neill, President of Cure Sanfilippo, used this realization to take action.

        “I’m not sure exactly what we expected at the time, but it lit a fire under us to get moving, to serve things up, to raise up the cause for Sanfilippo to anyone that would hear it. And through our Foundation efforts, many people were willing to hear it.”

        And their efforts had wider reaching impact than they ever could have predicted.

        “We never imagined Sanfilippo and our family would be featured on the Today Show, The Doctors TV show, People magazine, media stories around the world.

        “And as if ‘rare disease life’ isn’t bizarre enough, we got to share our wild Sanfilippo story on Inside Edition,” she shared with a chuckle.

        Their efforts and willingness to speak turned into action.

        “But with a lot of help, we were starting to see more and more people now talking about Sanfilippo. In that time, millions of dollars had been raised thanks to families just like us around the country, around the world. Critical dollars to fund Sanfilippo research leading to many meaningful collaborations and advances. All striving for an effective and ultimately approved treatment for all children.”

        The wave of action turned into results, into science that is testing possible therapies for Sanfilippo Syndrome right now.

        “Today, seven years since my first WORLD meeting, it’s a bit surreal to look back and see how much work has taken place in those years. There are now seven therapies for Sanfilippo Syndrome in clinical trials right now and much more science coming along the pipeline that really amazing. It’s remarkable to think that all these trials are happening.”

        Despite the years, O’Neill never forgets the initial feelings that drove her and Glenn to the conference.

        “But being here today, also takes me back to those early days, especially when I meet families like the Barrises and Grace Kerns; I meet those families who are here for the first time. It takes me back – maybe a little too much,” she said with emotion thick in her voice.

        “It takes me back to that utter panic and desperation to do whatever needs to be done to fill in the gaps, to create the right partnerships, and find a way forward to some sort of lifeline for these children. 

        Her work with the Foundation, scientific and clinical community, and industry are an outlet for those feelings. 

        “The past seven years have given me such privilege to work with so many like-minded advocates, Sanfilippo families, researchers, and industry partners who are all trying to move the needle forward. And that helps give me purpose in this tragedy.”

        She praised her family for the support and perspective that they provide her. 

        “I’m lucky also to have a true partner in this work and this ‘rare life,’ and this recognition is as much my husband Glenn’s as it is mine. And also my amazing children, Beckham and Eliza, who show me beautiful really is, despite the heartbreak this disease can bring.”

        Then she spoke powerfully of hope, sharing words that press people to never give up hope because it is what drives action. And, most importantly, that all hope is valuable.

        “My family and this community show every day that ‘hope’ is an action. It is being willing to work toward what might seem impossible. It’s about vision and perseverance.”

        “You see, there is no such thing as ‘false hope.’ Because hope is not conditional upon an outcome. Hope is actually just love on a mission!”

        She closed by again voicing her heartfelt thanks for the others in the room.

        “Thank you all for what you do and for this honor.”

        Her remarks received a standing ovation from the audience of patient advocates, scientist, and industry professionals.


        Read more

        Yahoo! Finance features Foundation’s Chief Science Officer

        Yahoo! Finance features Foundation’s Chief Science Officer

        Headshot of Dr. Cara O'NeillCure Sanfilippo Foundation’s Chief Science Officer Cara O’Neill, MD, FAAP, is at the WORLD Symposium 2020 in Orlando, FL, this week to make an important presentation about an innovative way to approach recording and measuring disease hallmarks post-gene therapy using video-based technology. 

        The PROVide Study uses video capture technology to monitor daily living, motor skills, and events, such as details regarding seizure frequency and length, sleep, stooling, and irritability/agitation. An additional layer of innovation in this study is the use of wearable devices to record additional data.

        Her presentation was included in a recent Yahoo! Finance article.

        Additionally, O’Neill is being awarded the Patient Advocate Leader of the Year at the WORLD Symposium. An honor that recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs.

        To learn more about the PROVide Study, contact the Foundation at Contact@CureSanfilippoFoundation.org.

        Read more

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo Foundation joined 72 other patient- and disease-advocacy organizations in voicing support for a strong national Open Access policy that would guarantee immediate, free access to and full reuse of the results of scientific research that our tax dollars support in a joint letter to the Trump Administration.


        The letter urged the Administration to issue a policy that eliminates the current 12-month
        delay on articles access, and to ensure that articles and supporting data resulting from
        taxpayer funded research be made immediately available under terms and conditions that
        allow their full reuse. 

        The U.S. government funds more than $60 billion in scientific research each year on behalf of the public. Making sure that the results of this research are readily accessible to all citizens will speed the pace of scientific discovery, spur innovation, and, most importantly, give patients and their families hope of finding cures to rare and currently untreatable diseases.

        Read the full letter here.

        The letter was coordinated by Genetic Alliance, a group that engages individuals, families, and communities to transform health.

        Read more

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Cure Sanfilippo Foundation has an ambitious plan for the next three years:

        5 clinical trials, treating 100 children, to prove at least 1 effective treatment

        Amazing things have happened in the six years since the Foundation was created because of the generosity of tens of thousands of people and the hard work of families and friends of children with Sanfilippo around the world. 

        So much progress toward a cure has been made. But there still isn’t an approved treatment or cure at this time. Yet.

        We have an ambitious plan to bring more clinical trials to children in the next three years. AND YOU CAN HELP MAKE IT HAPPEN.

        The Three-Year Plan:

        By driving the pace of science, we will find a cure in this lifetime.

        The remarkable support, progress, and need inspired the Foundation to create an audacious plan for the next three years. Because the supporters and families have proven that achieving bold goals is possible.

        Clinical trials are where the rubber meets the road, scientifically. It’s the crucial step of determining
        whether earlier research is able to show the same therapeutic benefits in people.


        Three-Year Plan - Element - Image Three-Year Plan - Element - Image Three-Year Plan - Element - Image


        There are no shortcuts in science.

        A cure requires significant resources. The daring price tag for this initiative is $10 million.

        It’s a big goal. But it can happen with support.

        Despite these dramatic costs, Cure Sanfilippo Foundation is finding
        innovative and collaborative ways to support and conduct clinical trials, as
        well as research.

        These strategies make your donations go further. It makes $10 million help even more children, and with an effective treatment, potentially thousands.

        The Future You Give Back

        With a cure, families like these can dream of the future again.

        The Burroughs Family The O'Neill Family

        How You Can Help

        Your support, now and tomorrow, gives children the chance at life.

        Every donation is deeply appreciated. And a multi-year commitment ensure the Foundation can achieve this plan to bring about these clinical trials in three years.

        Donate Now button


        About the Foundation

        Cure Sanfilippo Foundation leads in driving research to accelerate discovery of a cure for Sanfilippo Syndrome.
        In just six years, generous donors like you have enabled Cure Sanfilippo to generate more than $8 million through grassroots and viral fundraising to support and/or architect 20+ research projects globally, including several clinical trials.
        The Foundation’s exceptional thought-leadership enables us to chart a progressive course to find a cure.

        Read more

        Foundation-supported Anakinra clinical trial listed as “recruiting”

        Foundation-supported Anakinra clinical trial listed as “recruiting”

        As a collaborator on this study, Cure Sanfilippo Foundation is thrilled to announce the MPSIII (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on ClinicalTrials.gov.

        This is an option for any Type of Sanfilippo (A, B, C, D).

        Read the full listing at https://clinicaltrials.gov/ct2/show/NCT04018755.

        Study Description

        Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.

        Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that Anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III.

        The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement, and fatigue.

        However, there is no guarantee that participants will get any benefit from being in this study.

        Study Contact Information


        If interested, please contact the Clinical Trial site, Lundquist Institute (formerly LA Biomed). All contact details can be found at link below.

        If you have any questions for the study collaborator, Cure Sanfilippo Foundation, e-mail Contact@CureSanfilippoFoundation.org./.

        Read more

        Drug Re-Purposing & Re-Positioning Studies Funded by Cure Sanfilippo Presented At International Conference

        Drug Re-Purposing & Re-Positioning Studies Funded by Cure Sanfilippo Presented At International Conference

        Last month, the research institute TIGEM presented preliminary results of two studies funded by Cure Sanfilippo Foundation at the Conference of Telethon Fundamental Associations in Italy.

        Cure Sanfilippo partnered with TIGEM (Telethon Institute of Genetics and Medicine) on research projects to explore re-positioning and re-purposing FDA-approved compounds to determine if identify they can activate the clearance of pathologic lysosomal accumulation in MSD cellular models independently of the missing enzyme in each particular disease.

        Posters were presented by TIGEM at the conference for both projects. 

        Top of poster presentation at Telethon scientific meeting Oct 2019 about re-positioning FDA-approved compounds for MPS III


        Bottom of poster presentation at Telethon scientific meeting Oct 2019 about re-positioning FDA-approved compounds for MPS III

        The team developed a new high-content screening assay to determine lysosomal activity. They have identified similar primary “hit compound” in MSD and MPS IIIA. The same compound in the screening reduces cellular heparan sulfate GAGs in cell models for MSD and MPS IIIA.

        Poster presentation at Telethon scientific meeting Oct 2019 about disease mechanisms and pharmacological targeting of MPS III

        Read more about each specific research project:

        Further work to determine efficacy and proper concentration doses and delivery is ongoing in animal models and efficacy.

        Fellow Sanfilippo Advocate Katia Moletta (mother to Francesco, MPS IIIA) was able to be attend the scientific meeting and connect with the presenters from TIGEM.

        Katia Moletta at Telethon scientific meeting Oct 2019   Katia Moletta and Sandro Montefusco of TIGEMat Telethon scientific meeting Oct 2019

        Read more

        Adam Shaywitz, MD, PhD, joins Cure Sanfilippo Foundation board

        Adam Shaywitz, MD, PhD, joins Cure Sanfilippo Foundation board

        Adam Shaywitz, Cure Sanfilippo Foundation board memberAdam Shaywitz, MD, PhD, has joined the board for Cure Sanfilippo Foundation, bringing additional scientific and treatment development expertise to the organization.

        “We are absolutely thrilled to welcome Adam to the board and are grateful for his support of the Sanfilippo community over the years,” said Cure Sanfilippo Board member Valerie Byers, PhD. “His extensive experience in the drug development process for devastating rare pediatric conditions will provide the Foundation with unique and invaluable guidance as we aim to accelerate our impact in the space for children with Sanfilippo Syndrome.”

        Adam received his degrees from Harvard Medical School and trained in adult medicine at Massachusetts General Hospital. He subsequently pursued a fellowship in endocrinology, diabetes, and metabolism jointly at the Beth Israel-Deaconess Medical Center and Joslin Diabetes Center where he concurrently pursued postdoctoral studies in molecular physiology.

        Adam is Chief Medical Officer (CMO)-in-Residence at BridgeBio Pharma, where he currently serves as CMO for three subsidiary companies: CoA Therapeutics, Aspa Therapeutics, and Adrenas Therapeutics. 

        Prior to BridgeBio, he spent five years at BioMarin Pharmaceutical as an Executive Director in the Clinical Sciences group. While at BioMarin, Adam developed, designed and led natural history and clinical studies for Sanfilippo Syndrome. Additionally, he played a key role in developing a number of programs aimed at treating a broad range of diseases, including other lysosomal storage disorders. During his tenure at BioMarin, Adam also worked closely with the research and business development teams to develop and broaden the pre-clinical and clinical pipeline.

        “I am honored and excited to continue working with the Sanfilippo community in their mission to identify therapies that could make a meaningful impact to patients and families suffering from this devastating disease,” said Adam Shaywitz. “In addition to the urgency and drive that Cure Sanfilippo Foundation brings to their mission, they also possess a sophisticated understanding of what it takes to deliver novel therapies to patients and a willingness to dive in and participate in this process. I am looking forward to being a part of this dynamic and passionate team.”

        Read more

        International Honor of 2020 “Patient Advocate Leader” Given To Dr. Cara O’Neill

        International Honor of 2020 “Patient Advocate Leader” Given To Dr. Cara O’Neill

        Chief Science Officer Cara O'NeillThe thought leadership of Dr. Cara O’Neill, Chief Science Officer at Cure Sanfilippo Foundation, a pediatrician, and mother to a daughter with the rare disease Sanfilippo Syndrome (MPS III), in the rare disease space is being recognized at an international level.

        Each year, WORLDSymposium recognizes one individual for their patient advocacy leadership in the field of lysosomal disease. Dr. O’Neill is the recipient of the 2020 Patient Advocate Leader Award, which will be presented WORLDSymposium 2020 on Feb. 12, 2020.

        The award, which began in 2016, recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs. Past recipients include remarkable leaders such as Barbara Wedehase, former Executive Director of the MPS Society (2016); Christine Lavery, Group Chief Executive for the UK Society for Mucopolysaccharide Diseases (2017); Jack Johnson, Executive Director of the Fabry Support & Information Group (2018), and Mark Dant, Chairman of the EveryLife Foundation for Rare Diseases and founder of The Ryan Foundation (2019).

        “It is a great honor to receive this award, and I am humbled to be among past recipients of such high caliber and contribution,” said Dr. O’Neill. “Cure Sanfilippo Foundation has found many great partners interested in collaborating with us on new clinical strategies, improved patient input, and pathways for faster diagnosis, which benefits all families dealing with Sanfilippo Syndrome, as well as patient communities in other diseases.”

        Dr. O’Neill’s uniquely-paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and future translational paths for rare disease treatments.

        She leads patient-focused research efforts within Cure Sanfilippo and has presented at international conferences and authored peer-reviewed journal articles. In addition, she collaborates with other non-profit groups on mutual advocacy and research interests, as well as oversees the Foundation’s funding of external scientific programs.

        Dr. O’Neill leads in developing innovative integration of patient perspective and technology into study design and pioneering support for pediatricians in diagnosing rare diseases early, such as:

        • Conducting the first-ever Sanfilippo Caregiver Preference Study;
        • Piloting The GAPP Project, using cutting-edge facial recognition technology in pediatric clinics to accelerate accurate diagnosis and access to specialized geneticist for a wide range of genetic conditions;
        • Collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo, a crucial clinician tool as there is only scarce, fragmented management guidance currently available; and
        • Leveraging technology, such as wearable devices and video capture of disease symptoms (gait, motor skills, speech, social interaction), to improve the quantity and quality of date used to evaluate experimental therapies.

        “Her work has broader application than just Sanfilippo Syndrome. Many of the clinical and scientific strategies that O’Neill leads could be applied to multiple diseases, even beyond rare diseases, making her contributions to the scientific community exceptional,” said Dan Fraley, Chair of Cure Sanfilippo Foundation.

        This is fantastic news and a well-deserved honor for Dr. O’Neill. It has been a true inspiration to work with her on initiatives to improve the lives of patients with Sanfilippo Syndrome and their families,” said Wayne Pan, MD PhD MBA, Medical Director/Global Medical Affairs for BioMarin. “It is wonderful to see the lysosomal storage disease community recognizing her for all of your contributions.”

        Created in 2014 by O’Neill and her husband Glenn, Cure Sanfilippo Foundation has already raised more than $8 million through grassroots and viral fundraising which has helped fund more than 20 research projects, including the first-ever gene therapy clinical trials for Sanfilippo Syndrome. A complete list of funded projects can be viewed at CureSFF.org/Grants.

        Read more

        Why and how to achieve novel outcomes in neurodegenerative gene therapy trials

        Why and how to achieve novel outcomes in neurodegenerative gene therapy trials

        Picking outcome measures for neurodegenerative gene therapy trials in rare disease is difficult. The conditions often have a lot of heterogeneity, relatively small sample sizes, and rarely disease-specific outcome measures. That is why “outside the box” thinking is necessary, and Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, shared how novel outcomes could be used to expand and improve evaluation of gene therapy trials for neurodegenerative diseases at the Lysogene/Sarepta satellite symposium during SSIEM 2019 last week in Rotterdam, Netherlands.

        Cara O'Neill at SSIEM 2019Most of the measures used in childhood neurodegenerative conditions are drawn from more general measures based on normal neurodevelopment and behavior patterns, rather than hallmarks of particular disease. So rare diseases are always being compared to “Normal.” But is that a fair comparison knowing that these patients have had chronic ongoing brain injury to the immature developing brain? 

        “We have to do a better job of matching endpoints with the patient’s needs across the spectrum of any given disease,” urged O’Neill.

        The key is meeting the patient needs, not the clinician’s needs or fulfilling assumptions that have been made in the past about patients’ need.

        “We must get as close as we can to discerning what is going to make their life better, for however long that is.”

        Cara O'Neill at SSIEM 2019Sharing early data from the Foundation’s MPS III Caregiver Preference Study, O’Neill noted that the more than 160 Sanfilippo caregivers across 14 different countries listed pain, communication, mobility and hyperactivity among their treatment priorities. Additionally, what caregivers prioritize changes along the course of the disease. 

        O’Neill detailed how the Foundation has partnered with Aparito, Casimir Trials, and Lysogene to conduct an exploratory study of
        novel outcomes for MPS IIIA running in parallel to AAV10-SGSH intracranial gene therapy trial. The study uses frequent video capture by caregivers to monitors specific disease hallmarks and priorities identified by the Caregiver Preference Study in the child’s familiar environment  to capture the child’s best ability. 

        The patient-reported outcome videos study has allowed detection of subtle, but meaningful, incremental changes and appears feasible for longer term monitoring of real-world functioning and patient status, reported O’Neill.

          Read more

          ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

          ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

          Young children with Sanfilippo Syndrome who were treated with ABO-102 gene therapy in the high-dose cohort demonstrated preserved neurocognitive development 12-18 months post treatment. Additionally, the children continued to track within normal age-equivalent development.

          Abeona Therapeutics, which is conducting the ongoing Phase 1/2 clinical trial evaluating ABO-102 gene therapy, announced the positive data in late July. 

          In its statement, Abeona shared that, “Robust and sustained improvement observed in biomarkers confers additional evidence of a clear biological effect following ABO-102 administration. In addition, longer-term safety remained favorable eight months to two years after treatment.”

          Abeona is enrolling eligible patients at sites in the U.S., Spain, and Australia. Read more about the trial enrollment.

          Because of donors’ generous support, Cure Sanfilippo Foundation was an initial funder of Abeona’s gene therapy Type A and Type B clinical trials. 

          Read this article by SanfilippoNews.com for additional information about the clinical trial. 

          Read more

          Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

          Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

          Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease’s complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver’s experiences change and evolve as patients age. The burden and impact on caregivers’ quality of life is poorly defined and best-practice guidance for clinicians is lacking.

          Chief Science Officer Cara O'NeillA group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians. Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, was among the advisors. As a mother of a child with Sanfilippo, Cara brought first-hand caregiver perspective to the collaboration in addition to scientific and medical expertise.

          The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. They co-authored recommendations based on findings from qualitative and quantitative research, which were recently published in the Orphanet Journal of Rare Diseases.

          The article’s authors report that:
          “Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties.
          Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.”

          Additionally, the authors call for changing the narrative associated with Sanfilippo:

          “The panel agreed that the perceived aggressive behavior of the child may be better described as ‘physical impulsiveness’ and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members.

          Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills.”

          Read the complete article from the Orphanet Journal on Rare Diseases.

          Helping the research, clinical, and regulatory communities understand the perspectives of caregivers for Sanfilippo children is a priority for Cure Sanfilippo. The fastest path to a cure is when researchers, clinicians, regulators, and patient advocates collaborate and align. Another way to the Foundation is working to amplify the caregiver voice and project it into the industry space is with its Caregiver Preference Study. Learn more about this initiative.

          Read more

          Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

          Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

          Abeona has launched AbeonaTrials.com, a website featuring information about its Transpher A Study clinical trial in Sanfilippo syndrome type A (MPS IIIA). The Transpher A Study currently is enrolling eligible patients as young as 6 months old.

          A part of the site is an eligibility survey to see if your child may be able to participate:
          https://www.mpstransphera.com/#s3

          The following additional information was provided by Abeona regarding its website, its Transpher A Study and Transpher B Study, and how it’s working to spread awareness of them to families with Sanfilippo Syndrome.

          Click here or directly on the image for a downloadable PDF.


          July 2019 Update from Abeona regarding clinical trial tool and AbeonaTrials.com

          Read more

          Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

          Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

          First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early

          Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.

          Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.

          If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.

          Learn more about the Faces2Gene project and Foundation’s collaboration.

          Read more

          Sobi Update regarding Sanfilippo Type A clinical trial

          Sobi Update regarding Sanfilippo Type A clinical trial

          The following letter was released by Sobi on June 24, 2019, regarding its enzyme-replacement therapy clinical trial for Type A.
          We continue to communicate and collaborate with the company about the future of the trial, in an effort to continue to help children with Sanfilippo. 

          Read more

          Creation of Global Clinical Guidelines for Sanfilippo Syndrome

          Creation of Global Clinical Guidelines for Sanfilippo Syndrome

          Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia).

          Best-practice guidelines for clinical care are critical for both patients and health care professionals in the management of rare diseases where lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition. Such guidelines allow clinicians and other health-care professionals to make recommendations based on best-available evidence; improve consistency of diagnosis and clinical management across treatment centers; and enable affected families to make informed decisions regarding care and treatment.

          As several promising treatments move into clinical trial, the need for Global Clinical Guidelines has become increasingly important. The international  steering committee for this project includes: Dr. Simon Jones, UK (Chair); Dr. Joseph Muenzer, US; Dr. Chester Whitley, US; Dr. Nicole Muschol, Germany; Dr. Nicholas Smith, Australia; and Dr. Roberto Guigliani, Brazil.

          Experts worldwide from all of the disciplines of health professionals involved in the care of children and young adults with Sanfilippo will be invited to contribute content to the clinical management guidelines.

          These guidelines will be collated and validated by a wider pool of clinicians and the finalized Global Clinical Guidelines published in a peer-reviewed medical journal towards the end of 2019. Production of a family-friendly version of the guidelines is also planned.

          This project is supported by a grant from Global Genes and BioMarin Pharmaceutical

          Below: The team aggregated by the Foundation to lead the project.
          Global Clinical Guidelines on Sanfilippo Syndrome Steering Committee - February 2018

          Update: Read the April 2019 Foundation Update for the latest on the project.

          Read more

          Caregiver Preference Study for Sanfilippo Syndrome

          Caregiver Preference Study for Sanfilippo Syndrome

          Team working on Sanfilippo Syndrome caregiver preference studyCure Sanfilippo Foundation is working to publish the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It will include what parents consider “meaningful benefit,” as well as an exploratory staging tool.

          The aim of the Caregiver Preference Study is to help inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of children with Sanfilippo Syndrome. 

          Our hope is that the publication of these findings further inform key stakeholders, allowing the incorporation of patient voice into the decision making regarding the drug approval process and access. 

          Team working on Sanfilippo Syndrome caregiver preference study; Cara O'NeillOur project design for the Caregiver Preference Study incorporates these various stakeholders including industry partners, regulatory, and parents of children with Sanfilippo Syndrome. 

          More than 150 caregivers recently completed the quantitative survey and are currently being analyzed. Ongoing study results will be shared via poster presentations and manuscripts, as they become available. 

          Outcomes and interim results from our focus groups (the qualitative portion) were shared in a Platform and Poster Presentation at the World Symposium in February 2019 and 2020, and can be found here:
          presentation poster from the WORLD Symposium 2019 and poster presentation from the WORLD Symposium 2020

          Cara O'Neill presenting Caregiver Preference Study results at world conferenceThis important project has received grant support from BioMarin Pharmaceutical, Lysogene, Sobi, and Orchard Therapeutics.














           

          Sanfilippo Syndrome caregiver preference study poster presentation



          Read more

          Update from Abeona Therapeutics – February 2019

          Update from Abeona Therapeutics – February 2019

          The following is a message re-published from Michelle Berg, Vice President of Patient Affairs and Community Engagement for Abeona Therapeutics, Inc. To read the message in its original letter form, click here

          – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – 

          Hello to the International Leadership in the MPS III Community,

          I write to you on this special day that has been designated for the global recognition and deserved focus on those living with or affected by rare disease. This is a wonderful opportunity to bring more light to the everyday impact that navigating the challenges presented by rare disease has, beyond the responsibilities of daily life. Given the focus of our research efforts, rare disease is quite constantly on our minds but providing this additional insight to our team has brought further meaning. Thank you to those who have shared your perspectives with us. The following is an update that comes after continued work with the 9 collaborating foundations for additional studies investigating extended populations of children affected by MPS IIIA and MPS IIIB.

          This is a long message with the purpose of providing greater insight into the different MPS III ongoing and planned studies and other updates from Abeona. First, I’ll start with the news that João Siffert, M.D. has been appointed as CEO after serving as the interim-CEO for several months. For the time, he will continue to serve also as head of Research and Development and Chief Medical Officer until those roles can be filled.

          Next, I’ll elaborate on items we have shared previously and summarize notable updates for the ongoing and planned studies for the investigation first of MPS IIIA programs and then MPS IIIB.

          ABT-001: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA
          Our team met with both FDA and EMA regarding the progress to date on ABT-001, and it was decided that the eligibility criteria in ABT-001 Phase 1/2 study will be modified to enroll additional patients with greater function or who have experienced less neurologic decline. The listing in clinicaltrials.gov for this study is now revised with the following modifications. Those interested or with questions should contact their child’s physician to determine eligibility.
          • Inclusion criteria has been adjusted to include Age 6 months to 2 years or children older than 2 years with a minimum cognitive DQ of 60 or above calculated by Bayley Scales of Infant and Toddler Development
          • Total number of anticipated participants adjusted from 16 to 22. This means we are continuing enrollment across sites for a total of up to 8 more participants in Cohort 3.
          • Study completion date changed to Dec 2021 (from Dec 2020) to account for additional participants
          • Exclusion criteria has been modified to account for:
            • Previous treatment by HSCT or participation in gene/cell therapy or ERT clinical trial
            • Any vaccination with viral attenuated vaccines less than 30 days prior to scheduled date of treatment
            • Subjects with positive response for the ELISPOT for T-cell responses to AAV9
          • In addition to a primary outcome of safety, the change from baseline in the Age Equivalent Developmental Score (MSEL or Kaufman) compared with natural history study data will be measured
          • Additional secondary outcomes have been incorporated which include:
            • Change from baseline in the Cognitive Age Equivalent compared to natural history study, calculated using Bayley Scales of Infant and Toddler Development
            • PedsQL total score
            • Parent quality of life, using a tool called the Parenting Stress Index
            • Analysis in plasma, saliva, urine, feces of vector shedding
          • For outcomes already listed on ct.gov – change to 24 month timeframe (currently lists 12 months)

          ABT-003: Additional Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA and have further disease progression
          As a result of the changes outlined above, we have adjusted the additional planned trial, ABT003, to complement ABT-001 and to investigate the effects of ABO-102 in eligible patients with more progressed or increased neurological impact of the disease.
          • Enrollment criteria to complement upper limits for ABT-001 for no eligibility gap between these two studies
          • Inclusion/exclusion criteria and number of participants are not yet available for release
          • Protocol submission to regulatory agencies is imminent for Spain, Australia, and the United States
          • In parallel, preparations with sites in Spain, Australia, and the United States are well underway and will be limited to these countries
          • Currently, it’s not certain which country will be ready first but we will not wait for all three to initiate enrollment
          • More information will be provided as available
          ABT-002: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIB
          This study is still early with participants with safety as the highest priority followed by getting data to inform on dose. There have been recent updates to the clinicaltrials.gov listing for this study, summarized below:
          • Updated Responsible Party and main contact as Abeona
          • Added exclusion criterion of treatment with prior ERT
          • Modified age criteria for enrollment to 6 months and above
          • Removed secondary endpoint of change in brain volume by MRI
          • Added Spain as an active clinical site
          • Efforts continue to initiate sites in UK, Germany, and France
          Thank you again, as I realize this is a large amount of information. Lastly, I’ll be using this format for sending group emails in order to provide people with the option to unsubscribe should they choose to no longer receive updates from Abeona.

          Read more

          Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

          Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

          Cure Sanfilippo Foundation is collaborating with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.

          One way to determine if different genetic syndromes have distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis by medical professionals.

          Cure Sanfilippo asked the network of Sanfilippo families that elect to operate under its umbrella to provide facial photos of their children to help create a definition of the facial features for Sanfilippo Syndrome (MPS III) and study the facial features over different ages, genders and ethnicities.

          Once sufficient numbers of photos have been submitted, FDNA will run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time.

          Update: In 2018, the information uploaded to Face2Gene was used to create a Natural History of Facial Features Observed in Sanfilippo Syndrome, Type B. The following poster presentations were displayed at the 2018 World Symposium. To download a PDF of the posters, click the image. 

          Sanfilippo Syndrome, Type B, (MPSIIIB) facial features observed using next-gen phenotyping tool

           

          Distinct facial phenotype for Sanfilippo Syndrome (MPSIII)

          Read more



          A great resource for the latest in science and research regarding Sanfilippo, visit www.SanfilippoNews.com. The site provides the latest information and presents it in a format that families can easily understand.

          Information about global research

          For information about research beyond those funded by the Cure Sanfilippo Foundation, visit these links:

          How we push for progress

          To learn more about how we are working to make and fund progress in the effort to cure Sanfilippo, visit our What We Do page.

          CURE SANFILIPPO POSTER PRESENTATIONS

          Poster 1 :  Creation of facial gestalt for patient identification in Face2Gene facial recognition app.  Click image below or view the poster here: MPSIII Facial Phenotype Poster Final-WORLD 2018





          Poster 2 :  Our research in collaboration with FDNA has highlighted the facial natural history of patients with Sanfilippo Syndrome Type B, MPSIIIB. The facial recognition tool was able to identify children with MPSIIIB accurately as young as 1-3 yrs of age.  This suggests that the Face2Gene app may be beneficial in identifying patients at risk for MPSIIIB based on their facial features  Click image below or view the poster here:  MPSIIIB Facial Natural History Poster Final- ACMG April 2018




          Poster 3 :  Caregiver Perceptions about the accuracy of Cognitive testing in children with Sanfilippo syndrome (MPS III). Click image below or view the poster here:  MPSIII Caregiver Perceptions about Cognitive Testing Poster Final – WORLD Symposium 2018




          Poster 4 : To help researchers, the U.S. Food and Drug Administration (FDA), drug companies, and doctors investigating Sanfilippo Syndrome better evaluate meaningful change and benefit from treatments, the Foundation launched the first-ever Caregiver Preference Study for Sanfilippo Syndrome.

          Tapping the Sanfilippo community, Cure Sanfilippo Foundation asked parents and caregivers to share the most meaningful symptoms to address in developing therapies for children with Sanfilippo Syndrome. Three in-person focus groups, and more than 150 survey responses from 15 different countries were collected, creating a critical mass of data. The information will be developed into a report that’s distributed to regulatory and industry and available globally, so they can best align research end-points.

          A poster presentation on the project was given at WORLDSymposium™ 2018.

          Click on the image below or here to view the poster.

          Sanfilippo Syndrome caregiver preference study poster presentation

          Cure Sanfilippo Foundation

          501c3 non-profit
          (Tax ID: 46-4322131)

          curesff@gmail.com

          P.O. Box 6901
          Columbia, SC 29260

          N