Page last updated: March 31, 2026
Page reviewed by: Dr. Cara O’Neill, FAAP
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Clinical Trial Summary
Study: “Study of Epidiolex (cannabidiol) in Sanfilippo Syndrome”
Trial Listing: Read this clinical trial’s information on ClinicalTrials.gov, for more details including contact information to reach out to the study sites, full inclusion and exclusion criteria. We encourage you to check the Clinicaltrials.gov link frequently for updates on possible new study sites and changes in enrollment status or criteria.
Study opened for enrollment: March 25, 2026
Study design: Sentinel safety cohort (n=5) followed by double-blind, placebo-controlled, cross-over cohort (n=30)
Study status: Recruiting
Route of administration: Oral solution twice daily
Trial Information
The clinical trial aims to answer two main questions: 1) determine the safety & tolerability of Epidiolex (cannabidiol) in Sanfilippo syndrome, and 2) explore the efficacy of Epidiolex (cannabidiol) in treating the neurobehavioral symptoms and functional outcomes of Sanfilippo syndrome.
Each participant’s caregiver will be asked to complete surveys related to the participant’s behavior, mood, sleep, stooling, pain, and caregiver stress intermittently throughout the study.
All participants will be enrolled into one of two cohorts:
- Sentinel Safety Cohort (first 5 participants) – all participants treated with Epidiolex (cannabidiol)
- Controlled Cohort (next 30 participants) – participants randomized 1:1 (equal chance) to start treatment with Epidiolex (cannabidiol) or placebo for 16 weeks, followed by an 8-week washout period (no treatment). Participants then switch to the opposite treatment group for 16 weeks followed by all participants treated for 52 weeks with Epidiolex (cannabidiol).
All participants will undergo baseline clinical evaluations, and neurobehavioral, and functional outcomes will be collected from parent-reported questionnaires. Safety labs and questionnaires will be collected throughout to assess safety and efficacy.
Participants and study personnel will be blinded to the treatment status of each participant. When this blinded portion of the trial is completed, all participants will receive Epidiolex open label for 52 weeks to measure long-term safety.
The type and severity of adverse events will be collected to measure safety, and different behavioral and functional outcomes will be collected to measure efficacy.
Cure Sanfilippo Foundation is funding this clinical trial, inclusive of family travel, meals and lodging as part of trial participation thanks to the generous support of Foundation donors. Jazz Pharmaceuticals has kindly donated study drug product for this research study. We are grateful to again partner with the incredible clinical team at The Lundquist Institute at Harbor-UCLA Medical Center. Study activities will take place through a combination of in-person visits at The Lundquist Institute and via virtual visits from home to reduce burden on families as much as possible.
Study Contact
The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Site Contact: Cristi Williams, cristi.williams@lundquist.org
Press Releases, web articles, presentations regarding Epidiolex to treat Sanfilippo Syndrome
November 2024
- Julie Tuccillo, PharmD, of Jazz Pharmaceuticals and Jonathan Acevedo, BS, Cure Sanfilippo Foundation fellow, of The Lundquist Institute presented the science behind how epidiolex may benefit patients with Sanfilippo Syndrome and how over-the-counter CBD can be harmful at Cure Sanfilippo Foundation’s ADVANCE 2024 conference.
Cannabinoids 101 – Over-the-Counter compared to Medical-Grade Cannabidiol
Presentation by Julie Tuccillo, PharmD, of Jazz Pharmaceuticals, during Cure Sanfilippo Foundation’s ADVANCE 2024 community conference on October 30, 2024.
Tuccillo explores the difference between over-the-counter cannabidiol and medical-grade cannabidiol, including regulation, contamination, and product consistency.
Exploring the Therapeutic Potential of Cannabidiol in Sanfilippo Syndrome
Presentation by Jonathan Acevedo, BS, of The Lundquist Institute at Harbor-UCLA Medical Center, during Cure Sanfilippo Foundation’s ADVANCE 2024 community conference on October 30, 2024.
Acevedo explores cannabidiol (CBD) therapeutic mechanisms, CBD’s anti-inflammatory effects, CBD in other pediatric populations, and the clinical trial for Epidiolex in Sanfilippo Syndrome.