An update on progress you made possible in 2025
Your support has driven tremendous progress in Sanfilippo Syndrome research and clinical trials for more than a decade (12 years, actually). A sincere thank you, and we feel so fortunate to have you helping us in these efforts.
Every parent of a child diagnosed with Sanfilippo Syndrome faces the same fate. The painful and heart-breaking reality of watching their beautiful child lose all the skills they’ve gained, suffer seizures and movement disorders, and endure pain and suffering, all before an early death. As a parent, it’s almost unbelievable that this would happen to your child.
Your support is helping change that fate. We recently updated our partner-families with the latest work and progress of Cure Sanfilippo Foundation, and wanted to share some of these positive updates with you. There is quite a bit of information below, but thought it was important for you to know the breadth of work you are supporting and the Foundation you’ve helped build.
The research and clinical trial progress the Foundation fuels, as well as the Foundation’s ability to help families, is only possible because of YOU! We hope you are as proud as we are to be a part of this movement to better the lives of children and families affected by Sanfilippo Syndrome.
Recent happenings and work you are supporting…
Clinical trials
The following outlines the current landscape of clinical trials for Sanfilippo. Through ongoing research, we are working to bring forward even more opportunities and the next generation of treatment advances for all Sanfilippo types.
Type A: While there are active Sanfilippo Type A-specific clinical trials, at this time, they are fully enrolled or have already identified the patients they plan to enroll; thus, they are not currently accepting any new patients. There are about a handful of active trials, with several of these in the long-term follow-up stage where they continue following previously-treated patients to understand the long-term outcomes.
Type B: There is currently one Sanfilippo Type B-specific trial actively treating patients, which is an enzyme replacement study happening in Japan. The hope is that the sponsoring company will expand the study to other countries and regions. We also anticipate that another Type B enzyme replacement clinical trial that had completed its previous trial, will be opening a new Phase 3 trial in the new year, bolstered by their recent company announcement about receiving FDA Breakthrough Therapy Designation, as well as an infusion of $50 million into their program. Also, as detailed further below, the Sanfilippo community is excited about supporting a future Expanded Access enzyme replacement treatment program for Type B.
Type C & D: At this time, there are no active Sanfilippo Type C- or D-specific clinical trials. However, important progress is underway. The parent-led biotech company Phoenix Nest, which Cure Sanfilippo Foundation has supported with significant research funding, continues the work to bring forward treatment options for Sanfilippo C and D. A natural history study in Type D has been completed, and a Type C natural history study is currently underway in France, with a U.S. study site expected to open in 2026. This is exciting progress towards treatment trials!
New Drug Repurposing Clinical Trial: Cure Sanfilippo Foundation is fully funding the costs of conducting a new clinical trial, open to all subtypes (A, B, C, D) testing the drug Epidiolex at The Lundquist Institute and via remote visits. Preclinical studies show this drug has promise to help with many symptoms and cellular dysfunction of Sanfilippo, including inflammation, dopamine regulation, oxidative stress, and cellular metabolic pathways. We expect this trial to begin enrolling in the early new year, thanks to your support!
The landscape of clinical trial opportunities is constantly changing and evolving. We help our families navigate it all by providing the latest on clinical trials and offering individualized support and guidance.
Highlights of recent research commitments from Cure Sanfilippo Foundation
The Foundation has committed more than $1.2 million to advance a Type B Lentiviral stem cell gene therapy program, a new potential form of gene therapy, for those with Type B showing real promise. This treatment corrects the genetic cause of Sanfilippo B in the patients’ blood stem cells. These cells circulate through the body and brain to restore healthy enzyme levels and provide a stable source of enzyme replacement throughout the person’s life. A portion of these gene-corrected stem cells are able to migrate into the brain tissue and provide an even more robust correction of enzyme and inflammation. Our team met a major milestone this summer by having a positive meeting with the FDA where we aligned on next steps needed to reach approval for a clinical trial. Foundation funding will be used to continue the needed lab steps, including making an initial batch of drug and required process testing by the FDA. We continue to fundraise for the critical next steps of this research to prepare a clinical trial.
The Foundation has committed more than $800,000 to the Paris Brain Institute to develop a next-generation gene therapy for Type A, using a new vector, not AAV9, showing better distribution to the brain, effectiveness, and better safety profile in pre-clinical models. The Institute also has a Type B program moving forward. Both will need more funding to move to clinical trials in the coming years.
The Foundation’s latest grant round was finalized, with a record number of proposals reviewed by our Scientific Advisory Board and external peer reviewers. The Foundation Board of Directors has approved 9 new grants to be funded, which brings us to over 65 research projects funded worldwide. Twenty of them have ongoing funding obligations for the Foundation.
Highlights of other research models and infrastructure for future research
These are projects the Foundation is funding to continue improving researchers’ ability to investigate the disease and potential therapies.
- Creation of fly models letting researchers test drugs more efficiently and determine other genetic modifiers of disease severity.
- Researching new, less-invasive biomarkers of the central nervous system. A publication on this work is being drafted and research findings will be presented at the upcoming Lysosomal Disease WORLDSymposium in February.
- Developing peripheral neural stem cell models and cell models of the retina, including attenuated (less-studied, slower-progressing disease) phenotypes of Sanfilippo.
- Supporting clinical development of a new treatment, AVP6, which helps improve the way brain cells communicate with one another, reduces brain inflammation, and increases neurotrophic factors that support brain health. This therapy could help not only those with Sanfilippo, but also many other neurologic conditions.
- Many other projects are in the works to help explore additional research pathways.
Taking the mission to the next level …
Leveraging Sanfilippo Data Collaborative. The Foundation continues leading this global collaborative to bring together existing data in clinical trials and observational studies in order to learn from it and build external control data sets. A scoping review and development of a research database are currently underway. Our work has been selected for a poster presentation at the upcoming WORLDSymposium 2026 scientific conference.
Collaboration with Elsevier to utilize its AI tools and interrogate “big data” resources to guide drug repurposing, treatment targets, and clinical trial design for Sanfilippo.
Advocacy this summer and fall:
- Advocating on Capitol Hill in Washington, DC, and at the White House and ongoing Congressional outreach to share updates with Congress.
- Foundation CSO Dr. Cara O’Neill spoke at the Duke Margolis RISE workshop, a FDA convening in DC.
- Board member Jessica Haywood spoke at the Congressional Rare Disease Caucus on Capitol Hill.
- 45,000-signature, rare disease sign-on letter urging FDA regulatory flexibility and speed for rare diseases.
- Social media campaigns by many families to educate about Sanfilippo and the need for timely drug approvals.
- Media interviews, published articles, and news stories by families and Foundation leadership.
- Support for reauthorization of the Pediatric Review Voucher (PRV), a critical incentive for rare disease research. This has recently passed the House and is awaiting action in the Senate. Send your Senators message, urging their support.
Sanfilippo family support & resources
NEW: The Aurora Program is the Foundation’s newest family support offering. This group support program is designed to help Sanfilippo families build resilience, process grief, and find comfort in the journey. All sessions are led by a licensed mental health counselor with expertise in grief processing, traumatic stress, and wellness building. The Foundation’s first round of ongoing Aurora support groups are now serving 30 parents.
Family gatherings: The Foundation has hosted 9 regional family gatherings to date, which have brought together 72 families of children with Sanfilippo, including more than 300 parents, siblings, caregivers, extended family, and scientists and research team members. Because it is often difficult for families to travel long distances, we value being able to bring these gatherings closer to home so more families can participate.
Personalized support to families: Individual support and guidance at the time of diagnosis and ongoing support to assist with access to medical care, therapies, educational services (IEP support), navigating clinical trials, and engaging insurance companies to cover medical and therapeutic needs.
A big update …
This fall, an opportunity arose to support manufacturing of a Sanfilippo Type B enzyme replacement drug for future use under an Expanded Access Program. Expanded access (EA) typically allows for broader access without the same restrictive inclusion criteria that are commonly seen in formal clinical trials. This incredibly-unique opportunity required a large amount of funding ($5.5 million!) for drug production, safety testing, preparation, shipping, and materials needed for the specialized method of administration.
This fall, an opportunity arose to support manufacturing of a Sanfilippo Type B enzyme replacement drug for future use under an Expanded Access Program. Expanded access (EA) typically allows for broader access without the same restrictive inclusion criteria that are commonly seen in formal clinical trials. This incredibly-unique opportunity required a large amount of funding ($5.5 million!) for drug production, safety testing, preparation, shipping, and materials needed for the specialized method of administration.
We are thrilled to announce that the fundraising goal has been reached thanks to an incredible community effort and the tireless efforts of parents and families of children with Type B. Cure Sanfilippo Foundation is proud to be part of this significant funding outlay that will bring hope in the form of treatment and timely access to those who will be able to participate in the EA Program.
Cure Sanfilippo continues to partner with the company to move the program forward and finalize contracting. The target timeframe to begin offering EA treatment is the 3rd quarter of 2026. Additionally, we have been meeting with investigators who have experience with EA programs in order to best understand how to successfully deliver treatment under this pathway and to anticipate any hurdles and proactively address them.
Decisions about which clinical sites are eventually approved to deliver the drug and which individuals are enrolled in the EA Program will be in the hands of the physicians, the company, and FDA.
More information about the expanded access program for Type B.
Other announcements …
World Sanfilippo Awareness was recognized November 16th. A great day where Sanfilippo awareness was spread throughout the world. Many families have received official state and local recognition of the day or month in their respective areas!
Giving Tuesday was Dec. 2. This has become the largest single fundraising event each year, with many partner families participating in individual fundraisers for the Foundation’s mission. Thanks to an incredibly generous matching gift from The Carolyn Smith Foundation, more than $225,000 was raised!
ADVANCE Sanfilippo community virtual conference. This has been an annual family and scientific conference run by Cure Sanfilippo Foundation for the past three years. Due to the attention needed for the many advocacy and clinical trial priorities (as described above), the next ADVANCE conference will be held in 2026, with dates to be announced. We are excited to explore the possibility of a hybrid in-person/virtual conference format.
Other breaking news …
Another shot at Sanfilippo Type A gene therapy approval: Ultragenyx has announced its plans to resubmit its application for drug approval to the FDA in early 2026 for its Type A gene therapy. This summer, FDA issued a CRL (Complete Response Letter) for Ultragenyx’s initial submission for approval, citing observations around drug manufacturing. No concerns were cited around drug safety and effectiveness in the human clinical trial at that time. Ultragenyx’s resubmission will address the FDA’s requests and observations. Upon resubmission, we will continue advocating for maximum regulatory flexibility and a swift review and decision by the FDA. We hope that when we reach a first approval, it will open the doors to many more.
Did you know there’s a tax-advantaged way to contribute if you are over 70 and have an IRA? Anyone over the age of 70.5 years old can make a qualified charitable donation (QCD) directly to Cure Sanfilippo Foundation, up to an annual limit of $108,000, which will be excluded from taxable income. To learn more about donating your required minimum distribution (RMD) to the Foundation, reach out to us at Contact@CureSanfilippoFoundation.org and we can assist.
Learn more about QCDs and RMDs:
As always, we’d love to hear from you and invite you to reach out anytime at Contact@CureSanfilippoFoundation.org.
Thank you and have a great holiday season and New Year!
Glenn, Cara, & Cure Sanfilippo Foundation
P.S. If you’d like to continue supporting our mission to help children with Sanfilippo Syndrome, your donation is always appreciated.