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What is happening?
What is happening?
A promising gene therapy for Sanfilippo syndrome—a relentless disease that robs children of speech, mobility, and independence—is stalled by FDA delays. Trials show UX111 can slow or preserve these abilities, offering hope where no treatments exist.
Yet despite strong data, approval was rejected over minor manufacturing issues, delaying access for at least 6–12 months. For children with Sanfilippo, every month means irreversible loss.
Our kids are losing their voices, so we need yours to help by contacting HHS Secretary Kennedy and FDA Commissioner Makary and ensure:
Swift review of resubmissions for rare disease drugs, especially for Sanfilippo and Barth.
Engagement with sponsors to resolve minor issues before rejecting applications.
The FDA holds direct meetings with patient communities impacted by recent delays, including Sanfilippo and Barth.
The FDA makes full use of existing regulatory flexibility when the science is strong and safety risks are minimal.
Update as of April 2, 2026
Update as of April 2, 2026
Ultragenyx announced the U.S. Food and Drug Administration has accepted for review the resubmitted Biologics License Application (BLA) seeking accelerated approval for UX111 (rebisufligene etisparvovec) AAV9 gene therapy as a treatment for patients with Sanfilippo syndrome Type A (MPS IIIA). The FDA set a Prescription Drug User Fee Act (PDUFA) action date of September 19, 2026.
“The FDA’s acceptance of the BLA for UX111 brings us closer to the possibility of a first-ever therapy for Sanfilippo syndrome Type A—a milestone that we recognize cannot come soon enough for families facing this devastating diagnosis. We appreciate the FDA’s prompt acceptance of the resubmission and look forward to working with the Agency throughout its review in order to bring this treatment option to the Sanfilippo syndrome community as quickly as possible.” said Emil D. Kakkis, M.D., Ph.D., chief executive officer and president of Ultragenyx.
- Emil D. Kakkis, M.D., Ph.D., chief executive officer and president of Ultragenyx
Update as of February 26, 2026
Update as of February 26, 2026
Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, was among four expert witnesses testifying before the U.S. Senate Special Committee on Aging to explore how U.S. Food and Drug Administration processes and evolving standards unintentionally delay patient access to safe and effective therapies, particularly for individuals living with rare diseases.
“Congress has given FDA the tools of flexibility it needs to accelerate approvals for these devastating diseases. But sadly, flexibility and speed are not actually what most rare disease patients are witnessing. Transformative therapies are at FDA's doorstep. And so with great respect, families are pleading for FDA to unlock the door and move with urgency so that our children can have a chance at the life they deserve.”
- Dr. Cara O’Neill, Chief Science Officer and Co-Founder, Cure Sanfilippo Foundation, and mother of Eliza (age 16)
Help us call for change
Help us call for change
To help, pick one or all three of the options below. This isn’t just about Sanfilippo. Other rare disease patients are facing similar delays, and we need reform.
1) Help us reach Congress
1) Help us reach Congress
Add your information to this template letter and it will automatically be sent to your members of Congress.
Calls are even more important! Staffers track every single call that comes in to show members of Congress what is important. Staffers will simply be listening and taking notes, so don't stress!
Call and request to meet with your Congress member using the talking points we've prepared. You don't have to be an expert! Meetings can be in person or virtual.
2) Share stories on social and tag decision-makers
2) Share stories on social and tag decision-makers
Share posts from Sanfilippo families sharing their stories or engage with them on social media to amplify the message.
Social media platforms: BlueSky, Facebook, Instagram, TikTok, TruthSocial, Twitter/X, YouTube, etc.
Tag:
X: @US_FDA @MartyMakary @VPrasadMDMPH + your Congress reps
Instagram: @fda @martymakary @drmakaryFDA @seckennedy @robertfkennedyjr @karolineleavitt + your local Congresspeople and media
Hashtags: #ApproveHopeNow #NoMoreDelays #WalkTheTalkMakary
Latest News
Latest News
For families with children who have Sanfilippo syndrome, a terminal type of childhood dementia, time is not measured in years or presidential cycles...
Saskatoon family holding onto hope as they navigate world of 'childhood Alzheimer's'
Saskatoon family holding onto hope as they navigate world of 'childhood Alzheimer's'
About Sanfilippo Syndrome
About Sanfilippo Syndrome
Sanfilippo Syndrome is a terminal, degenerative disease that causes children to lose all the skills they’ve gained, suffer seizures and movement disorders, experience pain and suffering, dementia, and then die usually in their teen years. It is often referred to as being like a late-stage Alzheimer’s, but in children.
Sanfilippo is a rare genetic disease. Parents are unknowingly carriers of a genetic mutation that causes the children to have this condition. It is estimated that 1 in 70,000 births result in Sanfilippo. This equates to many thousands around the world suffering from this disease. Because it is rare, it is often left to parent-led organizations to spread awareness and fund research.
Supporting Organizations
Supporting Organizations
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