Edition | May 4, 2026
1. What to know about FDA’s new Plausible Mechanism Framework?
The FDA recently introduced the Plausible Mechanism Framework regulatory pathway, designed to help expedite approval of treatments for rare diseases where traditional clinical trials (e.g. randomized controlled trials) are difficult to conduct. In its current form, the framework is primarily written with “n-of-1” (also referred to as “n=1”) situations in mind, meaning treatments custom-made for a single patient or mutation. FDA’s draft guidance is also primarily focused on antisense oligonucleotides (ASOs) and genome editing. While this is a promising step forward, the guidance in its current state would apply only to a small portion of the rare disease treatment landscape, leaving out many other therapeutic approaches, such as gene therapy and enzyme replacement therapy, that treat entire disease subtypes.
Cure Sanfilippo Foundation submitted formal comments to the FDA, offering comprehensive feedback and urging them to broaden the scope. We believe the Plausible Mechanism Framework could be impactful for ultra-rare diseases like Sanfilippo, but only if it is broadened beyond its current scope. Specifically, we asked the FDA to expand the framework to cover ultra-rare disease populations as a whole, not just single-patient/mutation treatments, and to make it technology-agnostic so that gene therapies, enzyme replacement approaches, and other treatment types can benefit equally. To read Cara’s full comments, visit https://www.regulations.gov/comment/FDA-2026-D-1256-0146.
2. Clinical trial now recruiting for Epidiolex in Sanfilippo Syndrome
Recruitment is enrolling patients in the clinical trial testing Epidiolex, a pharmaceutical-grade, purified, oral solution of cannabidiol (CBD) without negative psychoactive effects, in Sanfilippo Syndrome types A, B, C, and D. It has been shown to be safe and effective in the treatment of children with severe epilepsy disorders and studies have shown that CBD improves behavior symptoms in children with autism and has been FDA approved for other genetic conditions. This research study will answer important questions about Epidiolex’s safety, tolerability, and efficacy in improving or stabilizing symptoms specifically in individuals with Sanfilippo Syndrome.
Cure Sanfilippo Foundation is funding this clinical trial, including participants’ travel, meals, and lodging stipends, thanks to the generous support of donors. Jazz Pharmaceuticals has kindly donated the study drug product for this research. We are grateful to again partner with the incredible clinical team at The Lundquist Institute at Harbor-UCLA Medical Center.
Find out more about this trial, including study contacts, at https://curesanfilippofoundation.org/2026/03/study-of-cannabidiol-in-sanfilippo-syndrome/. Reach out to us with any questions at Contact@CureSanfilippoFoundation.org.
3. Let us help prepare for your child’s next school review meeting
Is your school setting annual or special review meetings ahead of the end of the year? Remember Cure Sanfilippo Foundation Community Outreach and Education Coordinator Kassidie Reynolds is available to assist you in that process, so you feel more prepared and supported. You can text, email, or DM Kassidie to talk about your child’s strengths and needs at (803) 250-1985 or Kassidie@CureSanfilippoFoundation.org.
As a special education teacher previously, Kassidie can help with the following and more:
- Review finalized IEP documents or IEP drafts
- Review the IEP process, including types of meetings, due process, acronyms and word salad, and your rights under the law
- Attend meeting(s) as an advocate, if desired
- Prepare questions, statements, or concerns to include in the Parent Input section
- Provide letters of support, as needed
- Pre- and post-IEP meeting to prepare and debrief
- Help to develop written materials like daily and weekly communication logs
4. What are the Aurora Program open groups? And how are they different?
You may already know about the Foundation’s Aurora Program (free, counselor-led family support groups to help you process grief and build resilience, alongside others parents of children with Sanfilippo), but maybe you’re confused about what the difference is between the “Open Groups” (launched in April) and “Closed Groups” (launched in October 2025 and second round starting this month).
Open Groups are bi-weekly, 90-minute virtual sessions suited for parents who would like to participate in Aurora group sessions, but without the expectation of regular attendance. You can come to every session, occasionally, or only on the days you feel like you need support. Each session, you might encounter different people. There are currently two “general” Open Groups – one during school hours and the other in the evening – and one “Dads” Open Group. The difference between Open and Closed Groups is that Closed Groups have the same group of parents who commit to meeting every session for six months. If you’re interested in Open or Closed Groups, learn more and sign-up at https://curesanfilippofoundation.org/aurora-program/ or reach out to Kassidie at Kassidie@CureSanfilippofoundation.org.
5. Fundraising challenge: Chance to win a 4-night trip to Cancun
The We Play It Forward Foundation is hosting its annual golf fundraiser on May 28 (less than a month away), benefiting Cure Sanfilippo Foundation. As a bonus, We Play It Forward Foundation is hosting a fundraising challenge for interested Sanfilippo families, with first and second prize being a 4-night, all-inclusive stay at Paradisus Cancun resort. To qualify for the prize, a family must raise a minimum $10,000 via the We Play It Forward Foundation, a registered 501(c)3. If $20,000 or more is raised, airfare from North America will be included.
For families who are interested, there are three ways to raise dollars for the We Play It Forward Golf Event. We Play It Forward has pledged that proceeds from the golf event and challenge will go to Cure Sanfilippo Foundation as the beneficiary. Families in North America, check your email for additional information sent at 11:30 a.m. ET this morning.
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