Sanfilippo SyndromePhase 2/3NCT06333041
Study of Cannabidiol in Sanfilippo Syndrome
A Phase 2/3 study testing Epidiolex in people with Sanfilippo Syndrome and Mucopolysaccharidosis III, run by Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Sanfilippo Syndrome, Mucopolysaccharidosis III
- What is being tested?
- Epidiolex
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 35 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Apr 2026to Dec 2028
- Phase
- Phase 2/3
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
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- 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
Who cannot join
- 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
Show all 19Show fewer
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Torrance, California, 90502
Cristi Williams, cristi.williams@lundquist.org
Lynda Polgreen, MD, MS
About this study
Official title: Randomized, Double-Blind, Placebo-Controlled Cross-Over Study to Evaluate the Effects of Cannabidiol on Neurobehavioral and Function Outcomes in Sanfilippo Syndrome
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:
- 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).
Read the detailed description
Sanfilippo syndrome, or Mucopolysaccharidosis type III (MPS III), is a rare genetic lysosomal storage disease characterized by the accumulation of heparan sulfate due to insufficient production of lysosomal enzymes. Consequently, a buildup of heparan sulfate causes progressive neurodegeneration, leading to significant neurobehavioral problems. These neurobehavioral symptoms are highly disruptive and distressing to families, have a significant impact on the quality of life of the patients and their families, and likely interfere with adjunctive therapeutic attempts at supporting the child. To date, there are no approved therapies for the treatment of the neurobehavioral symptoms of Sanfilippo syndrome. Cannabidiol (CBD), a compound derived from the cannabis plant but without the psychoactive effects, has been shown to be safe and effective in the treatment of children with severe epilepsy disorders. Studies have shown that CBD improves behavior in children with autism. This study will use Epidiolex, a pharmaceutical-grade purified oral solution of cannabidiol that was approved by the FDA for the treatment of severe pediatric epilepsy disorders. Study subjects will include approximately 35 participants with Sanfilippo syndrome. Participants will undergo baseline clinical evaluations, and neurobehavioral, and functional outcomes will be collected from parent-reported questionnaires. Participants will then receive either Epidiolex or placebo for 16 weeks. Following this period and an 8-week washout, participants will cross over and receive the opposite treatment for 16 weeks. Safety labs and questionnaires will be collected throughout these periods 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.
- Conditions
- Sanfilippo Syndrome, Mucopolysaccharidosis III
- Being tested
- Epidiolex, Placebo
- Keywords
- Cannabidiol, Epidiolex
- Medical subject headings
- Mucopolysaccharidosis III
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EpidiolexDrug
Also called Cannabidiol; CBD
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.
PlaceboDrug
Placebo oral solution is a yellow oily solution containing the excipients sesame oil and anhydrous ethanol with added sweetener (sucralose) and strawberry flavoring
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Changes over 16 weeks of treatment versus 16 weeks of placebo
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2024
- Study start1 Apr 2026
- Primary completionApr 2027 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sanfilippo SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Model description
- Double-blind, placebo-controlled, cross-over study
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 35 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lynda E Polgreen, Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06333041
- Sponsor's protocol ID
- 32977-01-00
- Status last verified
- Jun 2026
- First submitted
- 20 Mar 2024
- Last updated
- 15 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Randomized, Double-Blind, Placebo-Controlled Cross-Over Study to Evaluate the Effects of Cannabidiol on Neurobehavioral and Function Outcomes in Sanfilippo Syndrome
- ClinicalTrials.gov ID
- NCT06333041
- Acronym / sponsor ID
- 32977-01-00
- Conditions
- Sanfilippo Syndrome, Mucopolysaccharidosis III
- Keywords
- Cannabidiol, Epidiolex
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 35 participants (estimated)
- Lead sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical CenterUniversity, hospital or other
- Study start
- 1 Apr 2026 (actual)
- Primary completion
- Apr 2027 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 27 Mar 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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).
Detailed description
Sanfilippo syndrome, or Mucopolysaccharidosis type III (MPS III), is a rare genetic lysosomal storage disease characterized by the accumulation of heparan sulfate due to insufficient production of lysosomal enzymes. Consequently, a buildup of heparan sulfate causes progressive neurodegeneration, leading to significant neurobehavioral problems. These neurobehavioral symptoms are highly disruptive and distressing to families, have a significant impact on the quality of life of the patients and their families, and likely interfere with adjunctive therapeutic attempts at supporting the child. To date, there are no approved therapies for the treatment of the neurobehavioral symptoms of Sanfilippo syndrome. Cannabidiol (CBD), a compound derived from the cannabis plant but without the psychoactive effects, has been shown to be safe and effective in the treatment of children with severe epilepsy disorders. Studies have shown that CBD improves behavior in children with autism. This study will use Epidiolex, a pharmaceutical-grade purified oral solution of cannabidiol that was approved by the FDA for the treatment of severe pediatric epilepsy disorders. Study subjects will include approximately 35 participants with Sanfilippo syndrome. Participants will undergo baseline clinical evaluations, and neurobehavioral, and functional outcomes will be collected from parent-reported questionnaires. Participants will then receive either Epidiolex or placebo for 16 weeks. Following this period and an 8-week washout, participants will cross over and receive the opposite treatment for 16 weeks. Safety labs and questionnaires will be collected throughout these periods 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
- Model description
- Double-blind, placebo-controlled, cross-over study
| Arm | Type | Receives |
|---|---|---|
| Epidiolex (cannabidiol) | Experimental | Drug: EpidiolexOral 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. |
| Placebo (PBO) | Placebo comparator | Drug: PlaceboWeek 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. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (11 listed)
- 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:
- One of the following criteria are met:
Key exclusion criteria (19 listed)
- 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:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| EpidiolexAlso: Cannabidiol; CBDEpidiolex (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. | Drug | Epidiolex (cannabidiol) |
| PlaceboPlacebo oral solution is a yellow oily solution containing the excipients sesame oil and anhydrous ethanol with added sweetener (sucralose) and strawberry flavoring | Drug | Placebo (PBO) |
Primary outcome
Sanfilippo Behavior Rating Scale (SBRS)- mood/anger/aggression score
Time frame: Changes over 16 weeks of treatment versus 16 weeks of placebo
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Sep 2026.
- Individual participant dataSharing planned: No
Related trials for Sanfilippo Syndrome
Not yet recruitingObservational study
MPS IIIA Disease Monitoring Program
MPS IIIA, Sanfilippo Syndrome
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome
Not yet recruitingPhase 3
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)
MPS IIIB
Not yet recruitingPhase 1/2
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
Sanfilippo Syndrome (MPS III)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing Epidiolex in people with Sanfilippo Syndrome and Mucopolysaccharidosis III, run by Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 19 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Adolfo Morales Garval, BA (310-357-9023, adolfo.morales@lundquist.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sanfilippo Behavior Rating Scale (SBRS)- mood/anger/aggression score (time frame: Changes over 16 weeks of treatment versus 16 weeks of placebo). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Sep 2026.