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
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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.
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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.

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.

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. 

        “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.


        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.

        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

        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.

        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.

        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.

        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.”

        Cure Sanfilippo Foundation

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

        curesff@gmail.com

        P.O. Box 6901
        Columbia, SC 29260

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