“5 Things to Know” is a new, quick digest from Cure Sanfilippo Foundation of five things especially relevant to the Sanfilippo Syndrome community. We are going to send these regularly to keep you updated and put information and resources at your fingertips.
1. Latest on various experimental clinical-stage Sanfilippo therapies in progress
Spruce’s Type B expanded access program is now on ClinicalTrials.gov
Spruce Bio’s Early/Expanded Access Program for the investigational Sanfilippo Type B enzyme replacement therapy, Tralesinidase alfa (TA) is now listed on the ClinicalTrials.gov website. We’re proud to see this program, sparked by families, continue advancing, to have been and continue to collaborate with Spruce on its development, and to have provided $4.785 Million in funding toward this $5.5M project. Spruce expects to begin treating patients in 4Q2026. For in-depth details about this EA program:
https://curesanfilippofoundation.org/2026/07/early-access-tralesinidase-alfa-in-mucopolysaccharidosis-type-iiib-spruce/
Information about their upcoming Phase 3 clinical trial is also available at:
https://curesanfilippofoundation.org/2020/03/sanfilippo-type-b-ert-therapy/
JCR’s Type B ERT U.S. sites starting to come online as recruiting
Earlier this summer, JCR Pharmaceuticals listed a clinical trial in the U.S., Germany, and United Kingdom for its JR-446 enzyme replacement therapy (ERT) for Sanfilippo Syndrome Type B on ClinicalTrials.gov. This month, the site at Children’s Hospital Oakland Research Institution/UCSF Oakland, Oakland, CA, opened for enrollment. The previously initiated trial in Japan is ongoing. For in-depth details about this ERT program:
https://curesanfilippofoundation.org/2024/07/jr-446-enzyme-replacement-mps-iiib-phase-i-ii/
Additional ongoing trials
Ongoing clinical trials that continue to follow previously enrolled patients also include Denali’s intravenous Type A ERT, DNL-126, GC Biopharma’s intracerebroventricular Type A ERT, GC1130A, Orchard’s ex vivo lentiviral autologous bone marrow transplant for Type A, OTL-201, Ultragenyx’s intravenous AAV9 gene therapy for Type A, UX111.
Drug repurposing clinical trials open to all Sanfilippo subtypes are open for enrollment. Find more info at the links below.
- Epidiolex (ages 4 years and above): https://curesanfilippofoundation.org/2026/03/study-of-cannabidiol-in-sanfilippo-syndrome/
- Ambroxol (adult participants): https://curesanfilippofoundation.org/2024/09/ambroxol-hydrochloride-mps-iiia-iiib-iiic-iiid-phase-ii-iii-lysosomal-rare-disorders-research-treatment-center-team-sanfilippo/
One month until PDUFA date for UX111 for Type A gene therapy!
The resubmitted Biologics License Application (BLA) under accelerated approval for Ultragenyx’s investigational gene therapy for Sanfilippo Type A has a target action date of Sept. 19, 2026. This means that the FDA is expected to make its decision on whether to approve the treatment by this date.
Just last week, the company received an accelerated approval of a gene therapy for a different metabolic disease, and while each disease and drug product is unique and independently reviewed, we are keeping hopeful about UX111 as we move closer to Sept 19.
If approved, UX111 would be the first-ever treatment for any form of Sanfilippo syndrome! But, the road doesn’t end there and continued commitment of patients who receive the treatment to keep participating in research and follow-up will be important. Treatments that are approved under “accelerated” approval then require confirmatory evidence to be submitted to the FDA to support a “full” long-term approval.
Check out the Foundation’s up-to-date clinical studies document about Sanfilippo clinical trials and studies:
https://curesanfilippofoundation.org/clinical-trials/
2. ADVANCE 2026 Sanfilippo Community conference: Updates, insights, and connection await you; register today
What’s happening with the treatments being developed for Sanfilippo? What new delivery vehicles and therapies are researchers exploring that could be the next clinical trials? You’ll hear directly from the scientists leading the emerging research and the biotechs developing therapies. Also there will be sessions on: strategies for when your child has an episode of unexplained distress or develops concerning movements, how families navigate various aspects of daily life with Sanfilippo, and much much more! Final agenda coming very soon.
Register today for ADVANCE 2026, Sept. 22-23, to learn from the expert scientists, clinicians, and biotechs speaking to these questions and more.
ADVANCE 2026 is an online event which is made available at no cost to the hundreds of attendees from around the world who attend each year. Thank you to this year’s generous sponsors for helping to make this possible: Denali Therapeutics, JCR Pharmaceuticals and MEDIPAL, Ultragenyx, Spruce Biosciences, Orchard Therapeutics, and GC Biopharma.
3. Tips on qualifying for an exemption: new Medicaid work requirements
Starting January 1, 2027, according to a new federal rule (CMS-2454-IFC), 43 US states (and DC) will be required to mandate that certain adult Medicaid enrollees demonstrate proof of work, study, or volunteering 80 hours a month to keep their insurance coverage.
Many parents and caregivers of children with Sanfilippo Syndrome qualify for an exemption, but you may still need to demonstrate proof. Here are some key points to know in a 5-minute read: https://curesanfilippofoundation.org/wp-content/uploads/2026/07/2027-Medicaid-Work-Requirement-Exemption-Sanfilippo-Parents.pdf.
Do you need help accessing or interpreting the language in your health insurance policy? Reach out to Foundation Community Outreach and Education Coordinator Kassidie Reynolds at Kassidie@CureSanfilippoFoundationg.org for one-on-one assistance. Also, keep your eyes open for information about an upcoming insurance workshop that the Foundation will be hosting to assist Sanfilippo families.
4. Publications show expert consensus; expert consensus gives FDA reason to believe
When advocating for the FDA to use a tailored regulatory approach (AKA regulatory flexibility) for rare diseases, such as accepting a biomarker to support accelerated approval, the FDA needs to have confidence that a change in the biomarker is reasonably likely to predict meaningful treatment benefit.
This is why the work being done to present, document, and publish peer-reviewed articles supporting CSF HS (cerebrospinal fluid heparan sulfate) as a biomarker for neurologic MPS diseases is such important work. These efforts create citable valid sources of evidence that FDA and other regulatory agencies around the world can rely on to support the use of CSF HS when evaluating a therapy’s effect. For the past several years, the MPS community of families, foundations, and researchers have been ardently making and documenting the case for a patient’s level of heparan sulfate to be considered a valid primary endpoint for therapy approval.
This summer, a group of MPS leaders, including Foundation’s Dr. Cara O’Neill, published a second article in Molecular Genetics and Metabolism, putting forward evidence and additional insight supporting the use of CSF HS as a biomarker.
Since the consensus conference and initial publication in 2024, a first accelerated approval has been achieved based on the reduction of the CSF HS surrogate biomarker (Avlayah for MPS II). We are hopeful that we will see more treatments approved by the FDA under this pathway for our children and loved ones who are in urgent need.
Read the most-recent article: https://doi.org/10.1016/j.ymgme.2026.109911
5. Welcoming fellow parent, Erin Stoop, as newest Foundation board member
“Cure Sanfilippo Foundation has been there for our family since the day our daughter was diagnosed with Sanfilippo Syndrome Type B in March 2022. They gave us hope during the darkest moment of our lives. Their unwavering commitment to finding treatments and a cure, while supporting and advocating for children and their families, has meant more to us than words can express. It is an honor to serve on the board. I hope to bring a parent’s perspective, advocate for families like ours, and help bring effective treatment options to our community,” said Erin Stoop, mom to 6-year-old Olivia (Sanfilippo Type B) and newest addition to the Foundation’s Board of Directors.
Erin lives in Wisconsin with her husband Tyler, daughter Liv, and son Liam. Liv was diagnosed with Sanfilippo Syndrome Type B in 2022. She and her family launched their “Saving Liv” fundraiser in December 2022 in partnership with the Foundation, raising more than $500,000. Additionally, Erin spearheads the family’s “Saving Liv” social media accounts, which has amassed 200,000+ followers across TikTok (@Saving_Liv), Instagram (@Saving_Liv), and Facebook and helped multiple children receive earlier diagnoses.
Professionally, Erin is a Clinical Pharmacist with a Doctor of Pharmacy (PharmD) from University of Wisconsin-Madison. She first worked as a retail pharmacist and then in a variety of positions at the Milwaukee Veterans Affairs Hospital over the past 10 years including: outpatient pharmacy, IV room, emergency department, inpatient medicine and the spinal cord unit.
Erin’s appointment reflects the Foundation’s ongoing commitment to ensuring that families’ voices remain central to the organization’s leadership.
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