What's happening in the fight to cure Sanfilippo?

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

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:

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

• Center for Disease Control (CDC): https://www.cdc.gov/coronavirus/2019-ncov/index.html
• HealthyChildren.org: https://healthychildren.org/English/health-issues/conditions/chest-lungs/Pages/2019-Novel-Coronavirus.aspx

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.

• BrainPOP: https://www.brainpop.com
• Khan Academy: https://www.khanacademy.org/

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

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:

• Today.com 
• ABCNews.com

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.

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. 

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.

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:

“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.

DOWNLOAD THE POSTER

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

• 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.

• 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.

• 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

• 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

DOWNLOAD THE POSTER

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

OUR THANKS

Contact Us

More than 20 years ago, Coach 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. 



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.

Happy Valentine’s Day!

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

Ingredients:
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. 

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

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

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

DRAGON MASTER LUKE

This 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

With 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

Forever 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

The 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

Perseverance 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

When 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

Bringing 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

As 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.

• Preorder Black DLC 10 inch Chef’s Knife in 20CV
• Preorder Brushed steel 10 inch Chef’s Knife in 20C

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

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.

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.

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.

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.

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

“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.”

Study Description

Study Contact Information

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:

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

• Center for Disease Control (CDC): https://www.cdc.gov/coronavirus/2019-ncov/index.html
• HealthyChildren.org: https://healthychildren.org/English/health-issues/conditions/chest-lungs/Pages/2019-Novel-Coronavirus.aspx

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.

• BrainPOP: https://www.brainpop.com
• Khan Academy: https://www.khanacademy.org/

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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

• 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.

• 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.

• 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

• 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

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

OUR THANKS

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

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. 

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

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.

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.

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.

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.

Study Description

Study Contact Information

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





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.



Read more about each specific research project:

• Re-Purposing of FDA-Approved Drugs for LSD
• Re-positioning of FDA-Approved Compounds in MPS III Cell Models

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.

  

Adam 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.”

The 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.

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.

Most 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.”

Sharing 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.

“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.

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.

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.


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

• 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)

• 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

• 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

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.