Epidiolex Trial for Presymptomatic Treatment of Sturge-Weber Syndrome (Epi-Pre)

Epidiolex Pilot Trial for Presymptomatic Treatment of Sturge-Weber Syndrome

Patients with Sturge-Weber syndrome (SWS) are frequently affected by seizures, and seizures are associated with poorer neurological outcomes. To date there is no established means of predicting or preventing seizure onset. Cannabidiol (Epidiolex) was well tolerated in an open label study in this population. This trial will evaluate whether Epidiolex in presymptomatic Sturge-Weber patients may delay the onset of seizures and improve neurological outcome.

Study Overview

• Status: Not yet recruiting
• Conditions: Sturge - Weber Syndrome (SWS)
• Intervention / Treatment: Drug: Epidiolex 100 mg/mL Oral Solution

Detailed Description

This is an open-label, prospective dose escalation study to determine the safety and tolerability of presymptomatic treatment of SWS patients with Epidiolex. The investigators hypothesize that Epidiolex will be well tolerated and delay seizure onset in SWS patients. The total number of subjects to be consented for this safety study=10 babies with SWS; the initial funded phase will be with 6 subjects. Interim analysis will be completed after 6 subjects; the remaining 4 will be enrolled as warranted for 6 months on Epidiolex. Subjects will be dosed as recommended clinically (starting at 2.5 mg/kg/day divided bid, with weekly increases over the next 4 weeks to a maximum dose of 20 mg/kg/day) as tolerated. Neurologic visits during the trial, the bloodwork, EEGs, and motor assessments will be done as research procedures. Once the first dose of the study drug is administered, a blood draw will be done at 4-hour and 12-hour post study drug administration. A mini-PK will be similarly performed once the maximum maintenance dose is achieved.

• Study Type: Interventional
• Enrollment (Estimated): 10
• Phase: Phase 2

Contacts and Locations

• Study Contact: Name: Anne Comi, MD; Phone Number: 443-923-9172; Email: comi@kennedykrieger.org
• Study Contact Backup: Name: Brenna Keam, BS; Phone Number: 443-923-9127; Email: keam@kennedykrieger.org

Study Locations

• United States
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Kennedy Krieger Institute
      • Contact: Anne Comi, MD; Phone Number: 443-923-9172; Email: comi@kennedykrieger.org
      • Contact: Brenna Keam, BS; Phone Number: 443-923-9127; Email: keam@kennedykrieger.org
      • Principal Investigator: Ryan Felling, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Clinical diagnosis of Sturge-Weber Syndrome.
• Age 1 to 18 months of age, inclusive.
• Neuroimaging demonstrating involvement of 3 or more lobes, or bilateral involvement.
• No history of seizures.
• Patient's parent or legal guardian provides written informed consent prior to treatment initiation.

Exclusion Criteria:

Any severe and/or uncontrolled medical conditions at randomization including, but not limited to the following:

• Liver disease such as cirrhosis, decompensated liver disease, and chronic hepatitis (i.e. quantifiable HBVDNA and/or positive HbsAg, quantifiable HCV-RNA). Specifically the patient should not have either AST or ALT more than 1.5 times the upper limit of normal. The Child- Pugh Score must be A (mild) which is a score of 5-6 (minimum/normal score=5). Child-Turcotte-Pugh (CTP) Calculator - Clinical Calculators - Hepatitis C Online (uw.edu)
• Uncontrolled diabetes as defined by fasting serum glucose > 1.5 ULN
• Active (acute or chronic) or uncontrolled severe infections

• Active, bleeding diathesis

  • Any other neurological diagnosis that increases the risk of seizure or neurodevelopmental disability.
  • Patients who have had a major surgery or significant traumatic injury within 4 weeks of study entry, patients who have not recovered from the side effects of any major surgery (defined as requiring general anesthesia), or patients that may require major surgery during the course of the study.
  • Prior treatment with any investigational drug or use of any other cannabis product within the preceding 4 weeks prior to study entry.
  • Use of aspirin.
  • Allergic reaction/hypersensitivity to Epidiolex or other forms of cannabidiol.
  • Concern for non-compliance to medical regimens, or concern that the patient will not be able to complete the entire study, whether due to reliability or logistical barriers. This includes those in foster care, or those unable to keep follow-up appointments, maintain close contact with Principal Investigator, or complete all necessary studies to maintain safety.
  • Use of any seizure medication (whether for seizures or any other reason) (e.g. valproate, clobazam).
  • Use of chronic medications other than a multi-vitamin and/or vitamin D supplements.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Presymptomatic Epidiolex Treatment; Epidiolex will be started at 2.5 mg/kg/day divided twice daily. The dose will increase weekly as tolerated over the next 5 weeks to a target dose of 20 mg/kg/day.	Drug: Epidiolex 100 mg/mL Oral Solution; Epidiolex is a prescription form of cannabidiol used to treat seizures. Epidiolex will be started at 2.5 mg/kg/day divided twice daily. The dose will increase weekly as tolerated over the next 5 weeks to a target dose of 20 mg/kg/day.; Other Names: Cannabidiol; CBD

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Safe completion as assessed by the number of participants with no significant side effects	6 months
Safe completion as assessed by the number of participants with no seizure onset	6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sturge-Weber Syndrome Neuroscore (SWS-NRS)	Neuroscore is a published SWS ordinal score that incorporates domains of visual field cut (0-2), hemiparesis (0-4), seizure frequency (0-4), and cognitive function (0-5). Total score is sum of 4 ratings with a total score from 0-15. Higher score worse impairment. This will be obtained at each study visit.	baseline, week 5, week 12, and week 24
Milestone checklist	A publicly available milestone checklist from Pathways.org will be completed at every study visit. The checklist is personalized based on age. Does not use a numerical or point based scoring system. It uses a pass/fail or completed/not-completed checklist tracking format related to Motor, Sensory, Communication, and Feeding abilities.	baseline, week 5, week 12, and week 24
Modified Early Motor Questionnaire (EMQ)	The Modified EMQ will be performed at baseline and at week 24. The EMQ evaluates abilities in three domains: Gross Motor skills, Fine Motor Skills, and Perception-Action Integration. It uses a 5-point scale including -2 = Sure that child does NOT show behavior, -1 = Child probably does NOT show behavior yet, 0 = Unsure whether child could do this or not, 1 = Child probably shows this behavior, and 2 = Sure that child shows this behavior and remember a particular instance. Minimum total score is -200. Maximum total score is 200. Higher score means higher certainty in the child's behaviors.	Baseline, week 24
Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT)	The PEDI-CAT will be performed at baseline and at week 24. The PEDI-CAT will evaluate abilities in four functional domains: Daily Activities, Mobility, Social/Cognitive, and Responsibility. The PEDI-CAT uses a 4-point scale including 1 = Unable, 2 = Hard, 3 = A Little Hard, and 4 = Easy. Minimum scaled score is 20. Maximum scaled score is 80. Higher total score means better functional ability.	Baseline, week 24
Modified Erhardt Developmental Prehension Assessment (EDPA)	The Modified EDPA will be performed at baseline and at week 24. The EDPA will evaluate hand skills and arm-hand movements at baseline and in response to the study drug. Both right and left hands are tested. Individual test components are scored by a well-established pattern (+), pattern not yet achieved (-), and temporary pattern to be replaced by a more mature pattern (++). Maximum score would be a well-established pattern (+) for all EDPA items. Higher score better, means a greater number of well-established hand skills and arm-hand movements.	Baseline, week 24

Collaborators and Investigators

• Sponsor: Johns Hopkins University
• Collaborators: Jazz Pharmaceuticals; Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Investigators: Principal Investigator: Ryan Felling, MD, PhD, Johns Hopkins School of Medicine

Study record dates

Study Major Dates

• Study Start (Estimated): August 1, 2026
• Primary Completion (Estimated): July 1, 2028
• Study Completion (Estimated): July 1, 2028

Study Registration Dates

• First Submitted: August 18, 2026
• First Submitted That Met QC Criteria: August 20, 2026
• First Posted (Actual): August 21, 2026

Study Record Updates

• Last Update Posted (Actual): August 26, 2026
• Last Update Submitted That Met QC Criteria: August 24, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: Open-label; Cannabidiol; Presymptomatic
• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Pathologic Processes; Brain Infarction; Brain Ischemia; Infarction; Necrosis; Ischemia; Stroke; Pathological Conditions, Signs and Symptoms; Brain Stem Infarctions; Organic Chemicals; Pharmaceutical Preparations; Hydrocarbons; Terpenes; Cannabinoids; Cannabidiol; Solutions
• Other Study ID Numbers: IRB00326943

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Demographics, baseline assessments, completion assessments, adverse events.
• IPD Sharing Time Frame: July 1, 2028 until July 1, 2029
• IPD Sharing Access Criteria: Supplemental data with paper when published. Other interested parties can reach out to comi@kennedykrieger.org to discuss other arrangements.
• IPD Sharing Supporting Information Type: SAP

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No