What's happening in the fight to cure Sanfilippo?

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
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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 Butler Family’s Fruit Cake

From Tom, Leighann, Ella, and Paisleigh (MPS IIIA)

1 lb butter, melted
12 eggs
4 cups self-rising flour
2-1/2 cups sugar
1 lb white raisins
1 lb red cherries
1/2 lb green cherries
1 lb candied pineapple
1 lb nuts
1 tsp lemon juice

Place nuts and fruit together in a bowl, and sprinkle with lemon juice. Mix all together. In another bowl, mix flour, eggs, and sugar. Add melted butter. Mix well. Pour over fruit and nuts. Mix.

Bake at 250°F for two hours.

The Byers Family’s Cranberry-Glazed Meatballs

1-1/2 lb lean ground beef
1/2 cup onion, finely chopped
1/2 cup plain bread crumbs
1/2 tsp salt
1/8 tsp pepper
2 eggs, slightly beaten
12 oz bottle chili sauce
8 oz jellied cranberry sauce

Preheat oven to 375°F. In large bowl, combine beef, onion, bread crumbs, salt, pepper, and beaten eggs. Mix well. Shape into 60 1-inch meatballs. Place on ungreased baking pan.

Bake at 375°F for 25 to 30 minutes until meatballs are no longer pink.

Combine chili and cranberry sauces in large sauce pan, blending well. Bring to a boil over medium heat. Reduce heat to low; simmer for 5 minutes, stirring occasionally.  Add meatballs to sauce, stir to coat. Cook until thoroughly heated, stirring occasionally.

The Esposito Family’s Roasted Garlic Guacamole Dip

From Dave, Elise, Keira (MPS IIIA) and Keaton

1/2 of a medium yellow or red onion, cut into coarse slices
1/2 cup of fresh cilantro leaves, stems removed
1/2 of a jalapeño pepper
10-12 cloves freshly-roasted garlic
3 tbsp lime juice
5 to 6 medium-ripe avocados
1/2 cup diced tomatoes*
1 tsp kosher salt
1/2 tsp garlic salt
1/2 tsp of Creole seasoning
1/3 cup of Cotija cheese, crumbled**
1/8 tsp of a chili powder or cayenne pepper, optional

Remove the seeds and white, inner ribs from the 1/2 of a jalapeno pepper. Place the jalapeno. Combine with onion, cilantro, garlic, and lime juice in a food processor until chunkily puréed. Set aside.

Slice the avocados in half and remove the pit. Scope the meat out from the inner walls of the outer skin and place in a bowl.

Use a potato masher to mash until desired consistency/texture. With a mixing spoon, fold the tomatoes, salt, garlic salt, Creole seasoning, and cheese into the puree.

Stir the avocadoes into the puree very well, but gently, to combine and make sure the seasonings are evenly distributed. If you want it spicier, add the chili powder or cayenne pepper. Serve with tortilla chips. Recipe adapted from Jeffrey Eisner.

*If using canned tomatoes, make sure to drain thoroughly.
**Substitute with grated Parmesan if you absolutely can’t find Cotija.

JACKSON’s Family’S Maine Blueberry Pie

From Hannah, Allan, and Jackson (MPS IIIA)

2 cups flour
1-1/2 tsp sugar
1 tsp salt
3/4 cup shortening (Crisco is best)
1 egg
1/4 cup cold water
1-1/2 tsp vinegar
3 cups frozen Maine Wild Blueberries
1/2 cup sugar
1/8 cup tapioca

Preheat over to 425°F. Mix together flour, sugar, and salt. With pastry blender, add the shortening. In a separate bowl, beat together egg, cold water, and vinegar. Combine dry and wet ingredients. *This makes enough for one pie (a bottom and top crust).

For the filling, mix together blueberries, sugar, and tapioca in a large bowl. Place filling on top of bottom crust. Place top crust on and sake edges. Make several slits on top crust to vent steam.

Bake at 425°F for 15 minutes, then turn down to 375°F for 45 minutes.

The Sarkar Family’s Spinach-Artichoke Dip

From Samir, Jen, Sophia, and Carter (MPS IIIA)

8 oz cream cheese
16 oz sour cream or plain Greek yogurt
1 stick of unsalted butter
1-1/2 cup shredded Parmesan cheese
14 oz. of quartered artichoke hearts, drained and coarsely chopped
4 oz diced jalapenos, drained
10 oz frozen spinach, thawed and drained
2 to 3 cloves garlic

In a large pit, melt butter then add cream cheese, sour cream, and Parmesan cheese, stirring often until fully melted and smooth. Add artichoke hearts, jalapenos, and spinach. Then add garlic. Stir all together. Put in a crockpot on low heat and serve with chips or veggies.

The Shamaly Family’s Sour-Cream Coffee Cake

From Kerry, Josephine, Alexander, and Ellie (MPS IIIB)

1 cup finely-chopped California walnuts
1/2 cup sugar
1 tsp cinnamon
1/2 cup butter or margarine
1 cup sugar
2 cups all-purpose flour
1 cup sour cream
2 eggs
1 tsp double-acting baking powder
1 tsp baking soda
1 tsp vanilla extract

About two hours or a day ahead: In a small bowl, combine nuts, 1/2 cup sugar, and cinnamon; set aside.

Preheat oven to 350°F. Grease 9-inch tube pan.

In a large bowl, with a mixer at medium speed, beat 1 cup sugar with butter or margarine until light and fluffy. Add remaining ingredients and beat at low speed until blended, constantly scraping bowl with rubber spatula. At medium speed, beat 3 minutes, occasionally scraping.

Spread half of batter in pan; sprinkle with half of nut mixture. Spread evenly with remaining batter and spring with remaining nut mixture.

Bake at 350°F for 60 to 65 minutes until cake pulls away from side of pan.  Cool in pan on wire rack for 10 minutes. Loosen inside edge; invert from pan onto wire rack.

To serve later, cover completely and wrap. Makes 8 to 10 servings.

Wishing you happy holidays.
And a wonderful New Year!

The following was written by Brittany Lagarde, parent of Sawyer (MPS IIIA). Originally posted on Facebook. We appreciate her permission to share her unique perspective on the holidays as a parent of a child with Sanfilippo Syndrome.

this time of year…
lots of expectations, ya know?
lots of unmet expectations, ya know?

What do you get a sweet girl for Christmas that has no idea Christmas even exists?
She can’t comprehend it.
She can’t tell me what she wants.
She can’t bake cookies with me.
She can’t sing Christmas songs (even though, she tries to make sounds when she hears music).
She doesn’t understand the man in the big red suit. She can’t really open presents without help, nor does she care.
She could careless if the house is decorated.
She can’t play out in the snow and make snowmen as her body temperature doesn’t regulate.
My sweet almost six-year-old has no comprehension of this magical time of year.

Does an ugly holiday sweater help you get into the seasonal spirit?

How about one with unicorns!

Better yet, this sweatshirt also helps find a cure for Sanfilippo Syndrome.

So what are you waiting for? Grab what’s sure to be you and your kids’ favorite holiday shirts this year, and enjoy knowing that you’re also helping cure kids with Sanfilippo Syndrome.



The shirt’s artwork features prancing unicorns, evergreen trees, snowflakes, and the reminder that “All I Want For Christmas Is A Cure.”

Shirts are available in adult and children’s sizes. Order soon to ensure delivery in time for the holidays.

Proceed of the 2019 ugly holiday sweater benefit Cure Sanfilippo Foundation.

PLACE YOUR ORDER

A donation helps keep Carson playing baseball.
Keeps Liv laughing and smiling.
Keeps Spencer splashing in the pool.
Keeps Sadie singing her favorite songs.
Keeps Connor playing basketball and soccer.
Keeps Oliver giving hugs to everyone he meets.
Keeps Eliza playing in the backyard.
Keeps Will eating the pie he loves.

Donation helps fund promising research projects that could extend children’s quality of life, giving them and their families more good days together.

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.

  

“This shouldn’t happen! Especially not to children.”

But you made the remarkable decision to something to help.

You can see how your donation is helping cure Sanfilippo Syndrome.

Check out the IMPACT REPORT.

Get a deeper look at what your generosity has already fueled. See the faces you are helping and the future you are creating. 

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.”

Last year, Spencer’s Sprinters raised just over $20,000 for Cure Sanfilippo Foundation by running the Genesis Battlegreen Run in Lexington, MA. This year, Spencer’s Sprinters are crushing last year’s fundraising and are on their way to raising $30,000 in advance of the Nov. 3 race day.

LexFUN! and Lexington Neighbors and Newcomers’ Club organize the annual Spencer’s Sprinters effort on behalf of the Smiths, a local family whose son Spencer has Sanfilippo Syndrome. 

Like all toddlers, Spencer loves to splash in the pool with his daddy, dance in the yard with his mommy, and pet every puppy dog he can get my hands on. But unlike most boys and girls, he’s battling MPS-III, commonly known as Sanfilippo Syndrome. 

Sanfilippo Syndrome is a genetic neurological disorder that can most-easily be understood as “childhood Alzheimer’s.” Both are a death sentence, but where Alzheimer’s strikes people toward the end of their lives, Sanfilippo attacks kids just as they have begun to learn to walk and talk.

There are several teams of researchers around the world who are studying ways to treat Sanfilippo kids like Spencer who lack an enzyme that breaks down natural cellular waste. 

The funds raised by Spencer’s Sprinters helps Cure Sanfilippo Foundation architect and fund more research to treat and/or cure this terrible disease, as well as increases awareness of Sanfilippo. 

“It is absolutely amazing to see the local community continue to rally around Spencer and his family,” said Glenn O’Neill, President of Cure Sanfilippo Foundation. “Their generous outpouring of love and support for this family means the crucial research for a cure will continue. It also gives hope to every parent of a child with Sanfilippo. We thank Spencer’s Sprinters for their tireless work and wish them a great run on Sunday.”

Visit the official Spencer’s Sprinters fundraising site and see the impressive number of people helping raise funds to help Spencer and other children with Sanfilippo.

Learn more about Spencer and hear his parents’ thoughts about life with Sanfilippo Syndrome.

*** UPDATE – Nov. 4, 2019 ***

Spencer’s Sprinters sprinted past their 2019 goal and crossed the finish line raising $33,330 to benefit Cure Sanfilippo Foundation and research to cure Sanfilippo Syndrome with this year’s Genesis Battlegreen Run. 

The first-ever gene therapy clinical trails, testing whether the treatment will work in children, are happening for Sanfilippo Syndrome Type A and B after decades of work by scientists, families, and foundations, including Cure Sanfilippo Foundation. 

Enabling a clinical trial to happen for Sanfilippo Syndrome Type C is among the priorities of Cure Sanfilippo Foundation. And families of children around the world with Type C are helping. 

Recently, Kampen Mot Klocken (Fight Against the Clock), a Swedish Sanfilippo group, raised $23,000 and donated it to Cure Sanfilippo in honor of Eyra who has Sanfilippo Syndrome Type C.



Kampen Mot Klocken raised the funds through creative and sometimes-frigid events throughout the year. 




“These funds were raised THANKS to volunteers who arranged dance shows, running events, a farmers day, and even a Christmas Day dip in the freezing ocean!” said Eyra’s mom . “But most of it comes from many small donations from all over Sweden – people who just wanted to help us. We have so much gratitude to both our amazing volunteers and donors.”

Three years ago, Glenn and Cara O’Neill took the phone call that would change their family forever.

Months later, Glenn and Cara decided to share that raw and life-changing moment in the hopes of spreading awareness to gain more funding for research for the many Sanfilippo children suffering and in need of a chance at life.

Today, the video continues spreading awareness with people still sharing and viewing it. In April 2019, it surpassed 3 MILLION views on YouTube.

The video also sparked extensive interaction and discussion, with 19,000 likes, 1,800 dislikes, and more than 2,000 comments.

One of the most-common comments was the of question of why the O’Neills chose to record and share the moment. The O’Neills directly responded to the commenters with a thoughtful explanation in the hopes of providing insight to their decision:

“Any time during our journey where we feel a moment is going to be special, we video it so that perhaps we might use it to spread more awareness to gain more funding for research for the so many children suffering and in need of a chance at life. … We will film and post any personal moment if we feel it will help the cause to Cure Sanfilippo and get more funding for clinical trial options to save children.”

“We used to be a private family, but we’ve had to change that to try to get attention for this rare disease. I truly hope no one ever finds themselves in the position we and other families are, and the desperation of having your beautiful child with a rapidly degenerative terminal brain disease with no cure or treatment. Perhaps you understand now why we posted this…even if you don’t agree.”

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.

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.