Whats Happening

What's happening in the fight to cure Sanfilippo?

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

Glenn O'Neill, CEO, Cure Sanfilippo Foundation

LOTS HAPPENING. Exciting progress being made.

Research & Grants

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

Review the projects and grants funded by Cure Sanfilippo Foundation.

Fundraising Events

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

See the Events Calendar.

Latest Foundation News

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

Artists bring to life inner superhero of children with Sanfilippo Syndrome

Artists bring to life inner superhero of children with Sanfilippo Syndrome

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

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

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

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

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

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

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

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

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

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

SUPER J

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

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

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

Read more

Meglio Knives donating 10% of premium knives to benefit Sanfilippo

Meglio Knives donating 10% of premium knives to benefit Sanfilippo

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

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

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




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

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

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

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

Read more

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

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

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

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

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

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

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

The Three-Year Plan:

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

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

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


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


There are no shortcuts in science.

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

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

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

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

The Future You Give Back

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

The Burroughs Family The O'Neill Family

How You Can Help

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

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

Donate Now button


About the Foundation

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

Read more

Sanfilippo girl coronated as Princess Rose, fulfilling her wish

Sanfilippo girl coronated as Princess Rose, fulfilling her wish

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

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

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

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

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

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





The coronation was featured in The Pasadena Star:

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



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

Rose Mendoza in local 2019 holiday parade

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

Rose Mendoza at 2020 Rose Parade

Rose Mendoza at 2020 Rose Parade

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

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

Read more

Foundation-supported Anakinra clinical trial listed as “recruiting”

Foundation-supported Anakinra clinical trial listed as “recruiting”

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

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

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

Study Description

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

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

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

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

Study Contact Information


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

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

Read more

Sanfilippo child featured on St. Louis billboards this holiday season

Sanfilippo child featured on St. Louis billboards this holiday season

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

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

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

Billboard in St. Louis, MO, featuring Carson Burroughs

Billboard in St. Louis, MO, featuring Carson Burroughs

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

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

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

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

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

Read more

Happy Holidays from our families to yours

Happy Holidays from our families to yours

2019 Holiday Greeting header

Sharing food is a universal symbol of love, gratitude, and caring. All of which we have in abundance for you, our supporters.

Here are some treasured recipes from several of Sanfilippo families as a symbol of our profound gratitude for your support. Perhaps one or two of these favorite family recipes will be a part of your holiday celebrations.

We hope they bring you joy (and lots of compliments!).

The Butler Family’s Fruit Cake

The Butler FamilyFrom 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

The Byers FamilyFrom Tim, Valerie, Will (MPS IIIB), and Samantha

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

The Esposito FamilyFrom 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

The Clark FamilyFrom 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

The Sarkar FamilyFrom 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

The Shamaly FamilyFrom 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!

Read more

Holidays are different, but still precious as a Sanfilippo parent

Holidays are different, but still precious as a Sanfilippo parent

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.

But it’s ok.

It’s ok because she’s happy watching her iPad. She’s happy when she gets snuggles.
She’s happy when you sing to her.
She’s happy jumping on her trampoline.
She’s happy when she gets to eat her favorite foods.
She’s happy when she’s with those she loves.
This time of year is full of so many romanticized traditions, but that’s not our reality.

All that matters is we still have our little girl and she’s not in pain.
Time is all we have, friends.
Treasure each day, each moment with those you love.
That’s the real meaning of the season.

Sawyer Lagrade, living with Sanfilippo Syndrome

Read more

Fun twist on ugly holiday sweater helps cure kids with Sanfilippo Syndrome

Fun twist on ugly holiday sweater helps cure kids with Sanfilippo Syndrome

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


*Special thanks to the Sarkar family for the idea, design, and modeling by big sister Sophia!

Read more

Sanfilippo families & supporters lead Foundation to record-breaking 2019 Giving Tuesday

Sanfilippo families & supporters lead Foundation to record-breaking 2019 Giving Tuesday

The goal for 2019 Giving Tuesday, Dec. 3, was a big one: $100,000. Ambitious and hopeful, the Foundation collaborated with its partners families on a plan to far surpass the 2018 record of $43,000. At end of Giving Tuesday, more than $130,000 had been raised. 

Families of children with Sanfilippo Syndrome and their supporters hosted more than 50 individual fundraisers via Facebook in the week leading up to Giving Tuesday.

2019 Giving Tuesday main image

Donation gives children with Sanfilippo Syndrome the gift of more good days. And parents more quality time with their terminally-ill child. Plus … it may just save their lives.

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.

2019 Giving Tuesday e-mail array 1 2019 Giving Tuesday e-mail array 1

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

The Foundation provided content such as graphics, sample posts, videos, and funny takes on trending memes to support the individual fundraisers. 

Once again our Sanfilippo community came out strong. With all 53 Cure Sanfilippo Foundation fundraisers going on for Giving Tuesday, you have helped raise over $120,000!!, said Lisa Bittner, mom of Luke (MPS IIIA), posted on her 2019 Giving Tuesday Facebook fundraiser. “That is an incredible amount, and will make an impact on moving research forward, faster.”

We are always humbled by the love and support that our family receives not only today but everyday,” said Josephine Shamaly, mom of Ellie (MPS IIIB), on her 2019 Giving Tuesday Facebook fundraiser.

Several supporters waited until 8:00 a.m. ET on Giving Tuesday to compete for Facebook’s $7 million in matching funds. The competition for those matching funds is fierce and it will be weeks until the Foundation knows whether any of those 8:00 a.m. donations were able to snag a match.

Read more

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

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

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

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

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

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


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

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

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

Read more about each specific research project:

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

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

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

Read more

Foundation Update – October 2019

Foundation Update – October 2019

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

That’s what you thought when you first heard about Sanfilippo Syndrome. You put yourself in the shoes of these parents who were told that their children will suffer and die from Sanfilippo, and it broke your heart.
But you made the remarkable decision to something to help.
You donated to Cure Sanfilippo Foundation to find a treatment or cure. And your donation is an investment to create a different future.
You can see how your donation is helping cure Sanfilippo Syndrome.
More research is happening than ever before. More clinical trials than ever in the history of Sanfilippo. Including more than 20 projects and multiple clinical trials funded by Cure Sanfilippo in five years. And much more to come.
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. 






USE BUTTONS ABOVE TO Download | View Full Screen
** on mobile?  Download is best option **

None of this happens without you.

Thank you for your generous support. A cure is closer than ever because of you.

Deepest thanks,
Glenn O’Neill
Dad, Donor, President Cure Sanfilippo Foundation

Read more

A great turnout for 2019 Moonball kickball fundraiser

A great turnout for 2019 Moonball kickball fundraiser

2019 Moonball fundraiser in Dobbs Ferry, NY

The community of Dobbs Ferry, NY, turned out on a Saturday morning in November for the 2019 Moonball Kickball Tournament, benefiting Jacob Moon, a local child with Sanfilippo Syndrome.

The second annual Moonball again attracted support from the community for a day of family-friendly kickball, food, and other games. In addition to players, the event was supported by sponsors and volunteers who helped set up, picked up food, manned tables, organized teams, donated items, cleaned up. Students from the middle and high schools helped with the event, and the Mercy College Men’s Lacrosse team refereed the games.

2019 Moonball fundraiser in Dobbs Ferry, NY

One of the most touching moments of the day was high-school students and teachers organizing a special inclusive “Buddy Ball Game” so Jacob and 10 fellow special-needs friends could join in the fun. Each child was accompanied by two students who helped him/her kick the ball and guided him/her in running the bases. Because of Sanfilippo, this wouldn’t be possible for Jacob without the thoughtful inclusion and accommodation of these students. 

2019 Moonball fundraiser in Dobbs Ferry, NY

“This was definitely one of many highlights of the day,” said Bill Moon, Jacob’s dad. “I loved this for the kids who participated and the volunteers!”

The local news station, News 12 – West Chester, featured the the 2019 Moonball Kickball Tournament. 



Last year, Moonball raised $12,000, and they were hoping to surpass that this year. They were successful and raised $18,000 this year! A portion is donated to Cure Sanfilippo Foundation to help fund continued research for a treatment or cure for Sanfilippo Syndrome.

Read an article about the 2019 Moonball by local newspaper The Hudson Independent.

Learn more about Jacob and hear his family’s story about living with Sanfilippo Syndrome.

2019 Moonball fundraiser in Dobbs Ferry, NY



  

Read more

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

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

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

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

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

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

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

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

Read more

Spencer’s Sprinters take on Genesis Battlegreen Run – Nov. 3, 2019

Spencer’s Sprinters take on Genesis Battlegreen Run – Nov. 3, 2019

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. 

Read more

Help end the “Diagnostic Odyssey” for rare disease, Cure Sanfilippo joins in asking of Congress

Help end the “Diagnostic Odyssey” for rare disease, Cure Sanfilippo joins in asking of Congress

Cure Sanfilippo Foundation is among 107 organizations that co-signed a letter earlier this month to U.S. Rep. Peters (CA) and Rep. Shimkus (IL), thanking them for introducing HR 4144, the Ending the Diagnostic Odyssey Act. 

The legislation would allow states to conduct a three-year pilot program to increase the Federal Medical Assistance Percentage (FMAP) rate to provide Whole Genome Sequencing clinical services for children on Medicaid with a disease that is suspected to have a genetic cause.

Eighty percent of all rare diseases have a genetic cause. And rare disease patients average eight physicians and three misdiagnoses over the span of seven years before the correct diagnosis is discovered. This “diagnostic odyssey” causes patients to miss critical windows of opportunity for treatment, improved quality of life, and clinical trials, in addition to experiencing anguish and chronic uncertainty.

Chief Science Officer Cara O'Neill“The diagnostic resource that HR 4144 would create expedites early and accurate diagnoses of rare diseases, ending the emotional roller coaster of the ‘diagnostic odyssey,'”said Cara O’Neill, MD FAAP, Chief Science Officer for Cure Sanfilippo Foundation.

“Earlier diagnosis means patients can immediately start treatment, if available, that sustain or improve their quality of life or access a clinical trial for an experimental therapy,” said O’Neill. “This is especially critical in diseases like Sanfilippo Syndrome, where time is not on the side of patients.”

The letter, spearheaded by Genetics Alliance, is also being delivered to other members of Congress, requesting their co-sponsorship of this important bi-partisan bill. Select Senators are being asked to introduce companion legislation in that chamber.

Read more

Swedish Sanfilippo Support Group Gives $23,000 to Cure Sanfilippo for Type C Program

Swedish Sanfilippo Support Group Gives $23,000 to Cure Sanfilippo for Type C Program

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 Klokan, "Race Against the Clock," a Swedish Sanfilippo group Eyra Wieslander, living with Sanfilippo Type C

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

Christmas Day polar dip fundraiser for Kampen Mot Klockan


Eyra Wieslander and her mom Ylva, living with Sanfilippo Type C“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.”

“These funds will go directly toward moving the Type C program forward toward a hopeful gene therapy clinical trial,” said Foundation President Glenn O’Neill. “Cure Sanfilippo is so thankful for this support from around the globe.”

Eyra’s family is one of many Type C families globally working to support the Foundation’s Type C program, including the partner families of Connor, Jonah, Mia, and Saga & Maia

Read more

More than $1 million raised so far in 2019 to cure Sanfilippo Syndrome

More than $1 million raised so far in 2019 to cure Sanfilippo Syndrome

Carson Burroughs, living with Sanfilippo Syndrome (MPS III)

Carson Burroughs, Age 8 |  Missouri | HEAR HIS FAMILY’S STORY

As of Oct. 7, Cure Sanfilippo Foundation has again passed the $1 million-raised mark in a year, thanks to the 70+ partner families and the generous donors nationally and globally who are committed to finding a treatment or cure for Sanfilippo Syndrome. 

This is the fourth year the Foundation has raised more than million dollars, which is remarkable given that it was founded in late 2013.  And there are no plans to slow down in the final three months of the year in order to push towards the annual goal of $2 million. 

“The research, projects, and clinical trials that these donations enable the Foundation to fund are helping continue to accelerate medical options for children and HOPE for their families and parents,” said Glenn O’Neill, President and father of Eliza, MPS IIIA. “I’m truly humbled and in awe of the amazing people who donate to help us cure or treat this disease.”

In recent years, the activities and hardwork by families of children with Sanfilippo Syndrome and their friends has created significant momentum. In 2013, there were no clinical trials happening for Sanfilippo Syndrome. Now, there are multiple. More than ever, a cure feels inevitable among the Sanfilippo community. And donations are what will dictate how fast that new future happens. 

“Every single donation, no matter its size, is so special,” said O’Neill. “Each one brings us a step closer to saving lives and to giving families better days, and more good days, with their children.”

Read more

Millions watch video of parents learning fate of daughter with Sanfilippo Syndrome

Millions watch video of parents learning fate of daughter with Sanfilippo Syndrome

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

A call letting them know whether their daughter Eliza would be permitted in a possibly life-saving clinical trial for Sanfilippo Syndrome, a rare, genetic, and fatal neurodegenerative disease likened to a childhood Alzheimer’s.

And they had a personal camera documenting the moment.



Thankfully, the news was good; Eliza was accepted into the first-ever gene therapy clinical trial for Sanfilippo Syndrome, Type A, conducted by Abeona Therapeutics and Nationwide Children’s Hospital and followed by a trial for Type B. (NOTE: Both clinical trials are still enrolling patients.)

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.”


O'Neill family - living with Sanfilippo Syndrome

Read more

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

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

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

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

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

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

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

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

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

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

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

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

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

Read more



Science & Research News

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

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

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

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

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

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

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

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

The Three-Year Plan:

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

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

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


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


There are no shortcuts in science.

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

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

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

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

The Future You Give Back

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

The Burroughs Family The O'Neill Family

How You Can Help

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

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

Donate Now button


About the Foundation

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

Read more

Foundation-supported Anakinra clinical trial listed as “recruiting”

Foundation-supported Anakinra clinical trial listed as “recruiting”

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

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

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

Study Description

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

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

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

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

Study Contact Information


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

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

Read more

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

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

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

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

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

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


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

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

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

Read more about each specific research project:

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

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

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

Read more

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

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

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

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

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

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

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

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

Read more

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

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

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

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

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

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

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

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

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

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

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

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

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

Read more

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

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

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

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

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

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

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

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

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

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

    Read more

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

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

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

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

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

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

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

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

    Read more

    Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

    Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

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

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

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

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

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

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

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

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

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

    Read more

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

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

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

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

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

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


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

    Read more

    Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

    Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

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

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

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

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

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

    Read more

    Sobi Update regarding Sanfilippo Type A clinical trial

    Sobi Update regarding Sanfilippo Type A clinical trial

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

    Read more

    Creation of Global Clinical Guidelines for Sanfilippo Syndrome

    Creation of Global Clinical Guidelines for Sanfilippo Syndrome

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

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

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

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

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

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

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

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

    Read more

    Caregiver Preference Study for Sanfilippo Syndrome

    Caregiver Preference Study for Sanfilippo Syndrome

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

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

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

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

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

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

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














     

    Sanfilippo Syndrome caregiver preference study poster presentation



    Read more

    Update from Abeona Therapeutics – February 2019

    Update from Abeona Therapeutics – February 2019

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

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

    Hello to the International Leadership in the MPS III Community,

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

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

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

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

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

    Read more

    Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

    Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

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

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

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

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

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

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

     

    Distinct facial phenotype for Sanfilippo Syndrome (MPSIII)

    Read more



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

    Information about global research

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

    How we push for progress

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

    CURE SANFILIPPO POSTER PRESENTATIONS

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





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




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




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

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

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

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

    Sanfilippo Syndrome caregiver preference study poster presentation

    Cure Sanfilippo Foundation

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

    curesff@gmail.com

    P.O. Box 6901
    Columbia, SC 29260

    N