My Pal Spencer #mpsIII is Fighting to Cure Sanfilippo Syndrome

02/18/2025

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Another exciting step towards a first ever drug approval for children with Sanfilippo type A!

On Feb 18, 2025, Ultragenyx announced the U.S. FDA has accepted its application seeking accelerated approval for UX111 (ABO-102) AAV gene therapy as a treatment for Sanfilippo syndrome type A (MPS IIIA). The FDA granted the BLA Priority Review with a Prescription Drug User Fee Act (PDUFA) action date of August 18, 2025. No advisory committee meeting is anticipated by the FDA at this time.

Read the press release from Ultragenyx: https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-fda-acceptance-and-priority-review

12/19/2024

10/11/2024

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What can flies tell us about Sanfilippo Syndrome? Lots, which is why the Foundation is again support the research of Trudy Mackay at Clemson University Center for Human Genetics (CHG) with a two-year renewal grant, made possible by the families and generous supporters.

The common fruit fly shares 75% of disease-causing genes with humans and is a well-established genetic model for studying the underlying genetic causes of rare human diseases. The fruit fly also produces heparan sulfate like humans and has all of the enzymes in the same pathway that degrades it.

With this grant, CHG scientists will screen several drugs that are approved by the Federal Drug Administration for pediatric use to determine if they restore sleep patterns to normal in the mutant flies.

See comments for more.

09/26/2024

Researchers at The University of North Carolina at Chapel Hill (UNC) have published a paper stating that their “findings support general tolerability and further study of fluoxetine as a potential therapy for MPS IIIA.”

Earlier research using cell and mouse models of MPS IIIA found that fluoxetine decreases the accumulation of glycosaminoglycans and aggregated autophagic substrates, reducing inflammation, and slowing cognitive deterioration.

To build upon those findings, the UNC team treated a single patient, 6 years old with MPS IIIA, under off-label prescription of fluoxetine, a selective serotonin reuptake inhibitor (SSRI). The primary endpoint was safety. Secondary exploratory assessments included urine quantitative heparan sulfate.

The UNC team reported in the Molecular Genetics and Metabolism Reports publication (link in comments): “Fluoxetine was well-tolerated in this patient and the patient continued treatment following the 12-month monitoring period. The patient experienced an increase in daytime somnolence which resolved with rescheduling fluoxetine administration to bedtime. Quantitative heparan sulfate levels remained elevated during treatment. Parents reported improved sleep latency time and less nighttime waking. These findings support general tolerability and further study of fluoxetine as a potential therapy for MPS IIIA.”

Cure Sanfilippo Foundation is proud to have funded the drug-screening research study which first identified fluoxetine as a potential treatment for Sanfilippo, in the lab of in the lab of Diego Medina, PhD, at the Telethon Institute of Genetics and Medicine (TIGEM), thanks to the amazing Sanfilippo family community and generous supporters.

“It is wonderful to see the Foundation's translational research funding being carried forward into the clinical setting. This case report provides important early data on human safety and clinical effect which will help stimulate further patient-centered research." said Glenn O'Neill, Cure Sanfilippo Foundation President and Co-Founder and Dad of Eliza.

09/25/2024

Good news and an urgent request to take action immediately …

Two days ago, the Give Kids A Chance Act was unanimously passed by the House Energy and Commerce Committee and also by the full U.S. House of Representatives. This bill includes a 5-year renewal of the Rare Pediatric Priority Review Voucher (PRV) Program, which is a critical piece of legislation to incentivize the development of treatments for Sanfilippo and other rare diseases.

Tomorrow, Thursday, Sept. 16, at 10:00 a.m., the Senate HELP Committee is holding a hearing on several bills, including the Creating Hope Reauthorization Act, which would reauthorize the Rare Pediatric Disease PRV program. The hope is that the committee will pass the bill quickly and the bill proceeds to the U.S. Senate for a vote. Without renewal, this program will expire after Sept. 30.

We have been partnering on this issue with the trusted advocacy organization EveryLife Foundation. They are encouraging us, members of the rare disease community, to continue advocating for reauthorization of the Rare Pediatric Disease PRV program to pass in the Senate.

Here’s how you can help today: Take two minutes and use the link below to send your U.S. Senators a message using EveryLife Foundation’s Action Center, asking them to support S. 4583, the Creating Hope Reauthorization Act. You simply enter your name and address, and it automatically populates a message to your Senators and will send for you.
https://everylifefoundation.org/rare-advocates/take-action/?vvsrc=%2fCampaigns%2f114509%2fRespond

Please send your message before tomorrow’s hearing so your Senators are aware of your request for support.

Grassroots actions by the Sanfilippo and wider rare disease community earlier this month, urging House members to support the reauthorization, clearly helped it pass the House. Let’s keep it up! Expiration of the Rare Pediatric Disease PRV would negatively impact the rare disease community, including for Sanfilippo.

Please let your Senators know that this program is vital. Thank you for lending your support!

09/03/2024

First day of 5th grade which is the start of Jr High in Wells and first day of Pre-k.

08/23/2024

Now that I live in Maine, I can frequent my favorite diner, The Maine Diner all the time. Maine Diner "World Famous Food Like Grandma Used To Make"

06/03/2024

Cure Sanfilippo Foundation is thrilled to see that a Sanfilippo program has been selected for FDA's new START pilot program, intended to improve efficiency of drug development by increasing the frequency and timeliness of product specific regulatory communications. Congratulations to the Denali team and to the Sanfilippo community!

Denali Therapeutics' DNL126 (ETV:SGSH) for MPS IIIA (Sanfilippo Syndrome Type A) has been selected by the for the Support for clinical Trials Advancing Rare disease Therapeutics (START) Pilot Program.

Read Denali's full press release in the comments.

05/27/2024

02/21/2024

What an honor, Scott Lewia was chosen as s 2019 recipient of the Sanofi Genzyme Torch Award. This award goes to someone that has made a difference in the rare disease world.

Scott and his Wells Warriors wrestling team have worked tirelessly to raise awareness and critically needed funds since they found out about Spencer’s diagnosis of Sanfilippo Syndrome. They are true advocates and represent the meaning of the Torch Award.

A $5000 donation will be made to the Cure Sanfilippo Foundation by Sanofi Genzyme in honor of Scott and his wrestling team.

Read more https://www.sanofigenzyme.com/en/about-us/our-stories/2019-torch-awards

Shelley Witts Howard Alli Hinman Smith Nate Smith Justin Smith

02/08/2024

Thank you for your continued support with your help this clinical trial was funded

https://m.facebook.com/story.php?story_fbid=732912238939650&id=100066626412825&mibextid=cr9u03

Sanfilippo syndrome type A (MPS IIIA) patients treated with UX111 showed sustained improvement in long-term cognitive development.