Cannabidiol (Epidiolex) for neurobehavioral symptoms in Sanfilippo syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

Approximately 35 participants with genetically confirmed Mucopolysaccharidosis type III (Sanfilippo) aged 4 years and older will be enrolled to collect safety and parent-reported neurobehavioral and functional outcomes. The first five participants form a sentinel safety cohort all receiving Epidiolex, and the next ~30 are randomized 1:1 in a controlled crossover design to receive Epidiolex or placebo for 16 weeks, then an 8-week washout, followed by the opposite treatment for 16 weeks. Caregivers will complete periodic surveys on behavior, mood, sleep, stooling, pain, and caregiver stress to capture changes during each treatment period. Epidiolex is an FDA-approved cannabidiol formulation for severe pediatric epilepsy and has shown behavioral benefits in other pediatric neurodevelopmental conditions, but its use in Sanfilippo is novel.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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:

  1. Anakinra
  2. Fluoxetine
  3. Probiotic supplement
* One of the following criteria are met:

  1. Previous participation in a gene/cell therapy or enzyme restorative clinical trial.
  2. Previously ineligible to participate in a gene/cell therapy or enzyme restorative clinical trial due to advanced disease state.
  3. Functional age, as measured by the Vineland, is ≤ 0.5 chronological age

Exclusion Criteria:

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
* Clinical evidence of liver disease or liver injury as indicated by the presence of abnormal tests (AST or ALT \> 2 x ULN; Bilirubin \> 2 x ULN)
* Known hypersensitivity to any components of Epidiolex (cannabidiol)
* Pregnant or lactating women
* Any other social or medical condition that the investigator believes would pose a significant hazard to the subject if the investigational therapy were initiated or be detrimental to the study

Where it's running

• The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
  Torrance, California, United States Recruiting

Study contacts

• Study coordinator: Adolfo Morales Garval, BA
• Email: adolfo.morales@lundquist.org
• Phone: 310-357-9023

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Gene therapy for treating MPS IIIA

  This study is testing a new gene therapy called UX111 to see if it can help people with MPS IIIA, a serious genetic disorder.

  Recruiting at 2 sites Phase 2/3 Ultragenyx Pharmaceutical Inc · Columbus, Ohio and 4 other locations · NCT02716246

• Observational study on Mucopolysaccharidosis diseases in France

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• Registry for patients with lysosomal storage diseases

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  Recruiting University of California, San Francisco · San Francisco, California · NCT05619900

• Using umbilical cord blood cells to treat inherited metabolic diseases

  This study is testing if a new treatment using special cells from umbilical cord blood can help people with inherited metabolic diseases and early signs of nerve damage feel better when combined with standard cord blood transplants.

  Recruiting Phase 1 Duke University · Durham, North Carolina · NCT02254863

• Monitoring program for Mucopolysaccharidosis VII disease

  This study is trying to understand how Mucopolysaccharidosis VII affects people over time and see if a treatment called vestronidase alfa is safe and effective for both treated and untreated patients.

  Recruiting at 12 sites Ultragenyx Pharmaceutical Inc · Orange, California and 13 other locations · NCT03604835

• Observing the progression of Sanfilippo Syndrome Type C in patients

  This study is tracking how Sanfilippo Syndrome Type C affects children and young adults over time to better understand its impact on their health and development.

  Recruiting at 2 sites Phoenix Nest · Dallas, Texas and 1 other locations · NCT05825131

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.