Study of Cannabidiol in Sanfilippo Syndrome

NCT06333041 | Not Yet Recruiting Phase 2 FDA Drug

• 1 other identifier: 32977-01-00
• Study Type: interventional
• Target: 35
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of 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 based on enrollment order:

1. 1.Sentinel Safety Cohort (first 5 participants) - all participants treated with Epidiolex (cannabidiol)
2. 2.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).

Conditions

Sanfilippo Syndrome; Mucopolysaccharidosis III

Keywords

Cannabidiol; Epidiolex

Outcome Measures

Primary Outcomes (1)

• Sanfilippo Behavior Rating Scale (SBRS)- mood/anger/aggression score

  The Sanfilippo Behavior Rating Scale is a 68-item questionnaire, developed by Shapiro et al to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression over time. The Sanfilippo Behavior Rating Scale mood/anger/aggression cluster is one of four clusters and two domains that make up the Sanfilippo Behavior Rating Scale. A higher score indicates more severe mood/anger/aggression symptoms. Each question within the mood/anger/aggression cluster is scored on a scale of 0-6 and a total mean score is calculated. The mean mood/anger/aggression score is standardized using the mean and standard deviation from a cohort of Sanfilippo patients, categorized as "slow progressors," ages 81-220 months. This reference cohort was chosen to best match the age distribution of our participants.

  Changes over 16 weeks of treatment versus 16 weeks of placebo

Study Arms (2)

Epidiolex (cannabidiol)

EXPERIMENTAL

Oral Epidiolex (cannabidiol) administered twice daily (BID) Week 1: 5 mg/kg/day BID Weeks 2-8: 10 mg/kg/day BID Weeks 9-16: 20 mg/kg/day BID 8-week washout; cross-over to placebo comparator starting on Week 24.

Drug: Epidiolex

Placebo (PBO)

PLACEBO COMPARATOR

Week 1: Dose escalate to maximum tolerated placebo dose Weeks 2-16: Maximum tolerated placebo dose 8-week washout; cross-over to Experimental group starting at week 24, following the same dose-escalation as the Experimental arm.

Drug: Placebo

Interventions

Placebo DRUG

Placebo oral solution is a yellow oily solution containing the excipients sesame oil and anhydrous ethanol with added sweetener (sucralose) and strawberry flavoring

Placebo (PBO)

Epidiolex DRUG

Epidiolex (cannabidiol) oral solution is a clear, colorless to yellow liquid containing cannabidiol at a concentration of 100 mg/mL. Inactive ingredients include dehydrated alcohol (7.9% w/v), sesame seed oil, strawberry flavor, and sucralose.

Also known as: Cannabidiol; CBD

Epidiolex (cannabidiol)

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• MPS III diagnosis confirmed by genetic testing
• ≥ 4 years of age
• Patient or parent/legal guardian is able and willing to provide informed consent. For patients 7 to 16 years of age, assent must also be provided when cognitively possible.
• If taking any of the following, no dose changes for the last 8 weeks:
• Anakinra
• Fluoxetine
• Probiotic supplement
• One of the following criteria are met:
• Previous participation in a gene/cell therapy or enzyme restorative clinical trial.
• Previously ineligible to participate in a gene/cell therapy or enzyme restorative clinical trial due to advanced disease state.
• Functional age, as measured by the Vineland, is ≤ 0.5 chronological age

You may not qualify if:

• Equitable selection will be used when choosing participants. An individual who meets any of the following criteria will be excluded from participation in this study:
• Mutation known to cause slowly progressive disease
• Taken any form of cannabis, including cannabidiol, in the last 8 weeks
• Currently enrolled in another ongoing clinical trial
• Concomitant use of any of the following therapies:
• Rifampin
• Diazepam (except for intermittent use as needed for treatment of a prolonged seizure episode)
• Clobazam
• Stiripentol
• Everolimus, sirolimus, tacrolimus
• Digoxin
• Valproate
• Recreational or medical Tetrahydrocannabinol (THC) or synthetic cannabinoid medications (including Sativex) within the last three months
• Felbamate (if taking for less than one year)
• Non-pharmacological therapies (e.g. ketogenic diet) must be stable for up to four weeks prior to enrollment

Sponsors & Collaborators

• Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center: lead

Study Sites (1)

The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center

Torrance, California, 90502, United States

Location

MeSH Terms

Conditions

Mucopolysaccharidosis III

Interventions

Cannabidiol

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Cannabinoids; Terpenes; Hydrocarbons; Organic Chemicals

Central Study Contacts

Jonathan Acevedo, BS

CONTACT

310-357-9023; jonathan.acevedo@lundquist.org

Adolfo Morales, BA

CONTACT

310-357-9023; adolfo.morales@lundquist.org

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Pediatrics

Model Details: Double-blind, placebo-controlled, cross-over study

Study Record Dates

• First Submitted: March 20, 2024
• First Posted: March 27, 2024
• Study Start: March 15, 2026
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): July 1, 2028
• Last Updated: February 27, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)