Cannabidiol for Tuberous Sclerosis Complex|Sanfilippo syndrome|Fragile X syndrome

Inclusion criteria

• {"criterion_text":"- Subjects must be at least 6 years old and have a clinically confirmed diagnosis of FXS, TSC or Sanfilippo syndrome. Participants must also exhibit severe behavioral manifestations, defined as a minimum score of 4 on the Clinical Global Impressions (CGI) scale. All medications or interventions for epilepsy and behavioral symptoms must have been stable for at least one month prior to the screening, and participants must be willing to maintain this regimen throughout the duration of the study. Finally, a consistently available patient caregiver is required to provide proxy reports."}
• {"criterion_text":"- Minimum age of 6 years old"}
• {"criterion_text":"- Clinically definite diagnosis of TSC, Sanfilippo syndrome or FXS (modified Gomez criteria or positive genetic test (such as FISH test, microarray, WES-analysis))"}
• {"criterion_text":"- Suffering from severe behavioural manifestation with a minimum score of 4 on the CGI scale"}
• {"criterion_text":"- All medications or interventions for epilepsy and behavioural manifestations must have been stable dosed for one month prior to screening and the participant is willing to maintain the current regimen throughout the trial"}
• {"criterion_text":"- Presence of a consistently available patient caregiver for proxy-reports"}

Exclusion criteria

• {"criterion_text":"- Use of valproate should be stable three months prior to enrolment"}
• {"criterion_text":"- Subjects who have had changes in non-exclusionary psychotropic medications within 4 weeks of initiation of trial"}
• {"criterion_text":"- Any planned major surgery within the duration of the trial"}
• {"criterion_text":"- Expected inability to take blood samples due to anxiety or resistance"}
• {"criterion_text":"- Unable to swallow the study drug (or placebo)"}
• {"criterion_text":"- The patient is unwilling or, in the investigator’s opinion, unable to adhere to the requirements of the study"}
• {"criterion_text":"- Any condition or abnormality which may, in opinion of the investigator, compromise the safety of patients"}
• {"criterion_text":"- Use of any interfering medication within 30 days prior to enrolment or planning to take in-terfering medication during the trial"}
• {"criterion_text":"- Any known or suspected hypersensitivity to cannabinoids or any of the excipients of the Investigational Medicinal Product (IMP), such as sesame oil"}
• {"criterion_text":"- Participant is currently using or has in the past used recreational or medicinal cannabis, or cannabinoid-based medications, within three months prior to screening and is unwilling to abstain for the duration of the study"}
• {"criterion_text":"- Treatment with CBD or other cannabinoid within the previous two months"}
• {"criterion_text":"- History or current evidence of significantly impaired liver function, defined as 1) Alanine aminotransferase (ALT) and / or aspartate aminotransferase (AST) > 5 × upper limit of normal (ULN); 2) ALT or AST > 3 × ULN with concomitant total bilirubin > 2.0 × ULN; or 3) ALT or AST ≥ 3 × ULN with the appearance of fatigue, nausea, vomiting, right upper quadrant pain or tenderness, fever, rash, and/or eosinophilia"}
• {"criterion_text":"- Pregnancy or breastfeeding"}
• {"criterion_text":"- Glaucoma"}
• {"criterion_text":"- Participant has undergone general anaesthesia in the four weeks prior to randomization"}
• {"criterion_text":"- Planned changes in use of anti-epileptics"}

Primary endpoints

• {"endpoint_text":"- The effectiveness of CBD on behavioural problems using the irritability subscale of the Aberrant Behavior Checklist (ABC) in children and adults with FXS, TSC and Sanfilippo syndrome","definition_or_measurement_approach":"Measured using the irritability subscale of the Aberrant Behavior Checklist (ABC)."}

Secondary endpoints

• {"endpoint_text":"- Effectiveness of CBD on symptom severity, measured bij change in Clinical Global Impression (CGI)","definition_or_measurement_approach":"Measured by change in the Clinical Global Impression (CGI)."}
• {"endpoint_text":"- Effectiveness of CBD on quality of life, measured by changes in syndrome specific outcome measures.","definition_or_measurement_approach":"Measured by changes in syndrome-specific outcome measures."}
• {"endpoint_text":"- Effectiveness of CBD on anxiety, depression and mood, measured by change in Anxiety, Depression and Mood Scale (ADAMS).","definition_or_measurement_approach":"Measured by change in the ADAMS scale."}
• {"endpoint_text":"- Effectiveness of CBD on autism symptoms, measured by change in Social Communication Questionnaire / Social Responsiveness Scale (SCQ/SRS-2) score","definition_or_measurement_approach":"Measured by change in SCQ and/or SRS-2 scores."}
• {"endpoint_text":"- Effectiveness of CBD on sensory processing, measured by change in Short Sensory Profile (SP-NL)","definition_or_measurement_approach":"Measured by change in the Short Sensory Profile (SP-NL)."}
• {"endpoint_text":"- Effectiveness of CBD on parental stress, measured by change in Opvoedingsbelasting Vragenlijst (OBVL)","definition_or_measurement_approach":"Measured by change in the OBVL (Opvoedingsbelasting Vragenlijst)."}
• {"endpoint_text":"- Effectiveness of CBD on personal goals, measured by change in Goal Attainment Scaling (GAS)","definition_or_measurement_approach":"Measured by change in Goal Attainment Scaling (GAS)."}
• {"endpoint_text":"- Effectiveness of CBD on focal and generalized seizure frequency, measured by keeping a seizure diary each time a seizure occurs.","definition_or_measurement_approach":"Measured by seizure diary entries documenting each seizure event (frequency)."}
• {"endpoint_text":"- Safety and tolerability of CBD, measured by keeping track of adverse events and side effects","definition_or_measurement_approach":"Measured by recording adverse events and side effects throughout the study."}
• {"endpoint_text":"- Monitoring of hepatic enzyme levels (ALT, AST, bilirubin)","definition_or_measurement_approach":"Measured by laboratory monitoring of ALT, AST and bilirubin levels."}

Netherlands

Earliest CTIS Part Ii Submission Date

13-10-2025

Latest Decision Or Authorization Date

30-10-2025

Processing Time Days

17

Number Of Sites

1

Number Of Participants

30

Primary sponsor

Full Name

Amsterdam UMC Stichting

Organisation Type

Patient organisation/association

Country Of Registered Address

Netherlands