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

24 août 2026 mis à jour par: Johns Hopkins University

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.

Aperçu de l'étude

Statut

Pas encore de recrutement

Les conditions

Intervention / Traitement

Description détaillée

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.

Type d'étude

Interventionnel

Inscription (Estimé)

10

Phase

  • Phase 2

Contacts et emplacements

Cette section fournit les coordonnées de ceux qui mènent l'étude et des informations sur le lieu où cette étude est menée.

Coordonnées de l'étude

Sauvegarde des contacts de l'étude

Lieux d'étude

  • États-Unis
    • Maryland
      • Baltimore, Maryland, États-Unis, 21205
        • Kennedy Krieger Institute
        • Contact:
        • Contact:
        • Chercheur principal:
          • Ryan Felling, MD, PhD

Critères de participation

Les chercheurs recherchent des personnes qui correspondent à une certaine description, appelée critères d'éligibilité. Certains exemples de ces critères sont l'état de santé général d'une personne ou des traitements antérieurs.

Critère d'éligibilité

Âges éligibles pour étudier

  • Enfant

Accepte les volontaires sains

Non

La 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.

Plan d'étude

Cette section fournit des détails sur le plan d'étude, y compris la façon dont l'étude est conçue et ce que l'étude mesure.

Comment l'étude est-elle conçue ?

Détails de conception

  • Objectif principal: Traitement
  • Répartition: N / A
  • Modèle interventionnel: Affectation à un seul groupe
  • Masquage: Aucun (étiquette ouverte)

Armes et Interventions

Groupe de participants / Bras
Intervention / Traitement
Expérimental: 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.
Médicament: 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.
Autres noms:
  • Cannabidiol
  • CDB

Que mesure l'étude ?

Principaux critères de jugement

Mesure des résultats
Délai
Safe completion as assessed by the number of participants with no significant side effects
Délai: 6 months
6 months
Safe completion as assessed by the number of participants with no seizure onset
Délai: 6 months
6 months

Mesures de résultats secondaires

Mesure des résultats
Description de la mesure
Délai
Sturge-Weber Syndrome Neuroscore (SWS-NRS)
Délai: baseline, week 5, week 12, and week 24
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
Délai: baseline, week 5, week 12, and week 24
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)
Délai: Baseline, week 24
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)
Délai: Baseline, week 24
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)
Délai: Baseline, week 24
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

Collaborateurs et enquêteurs

C'est ici que vous trouverez les personnes et les organisations impliquées dans cette étude.

Parrainer

Johns Hopkins University

Collaborateurs

Jazz Pharmaceuticals
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Les enquêteurs

  • Chercheur principal: Ryan Felling, MD, PhD, Johns Hopkins School of Medicine

Dates d'enregistrement des études

Ces dates suivent la progression des dossiers d'étude et des soumissions de résultats sommaires à ClinicalTrials.gov. Les dossiers d'étude et les résultats rapportés sont examinés par la Bibliothèque nationale de médecine (NLM) pour s'assurer qu'ils répondent à des normes de contrôle de qualité spécifiques avant d'être publiés sur le site Web public.

Dates principales de l'étude

Début de l'étude (Estimé)

1 août 2026

Achèvement primaire (Estimé)

1 juillet 2028

Achèvement de l'étude (Estimé)

1 juillet 2028

Dates d'inscription aux études

Première soumission

18 août 2026

Première soumission répondant aux critères de contrôle qualité

20 août 2026

Première publication (Réel)

21 août 2026

Mises à jour des dossiers d'étude

Dernière mise à jour publiée (Réel)

26 août 2026

Dernière mise à jour soumise répondant aux critères de contrôle qualité

24 août 2026

Dernière vérification

1 août 2026

Plus d'information

Termes liés à cette étude

Mots clés

Termes MeSH pertinents supplémentaires

Autres numéros d'identification d'étude

  • IRB00326943

Plan pour les données individuelles des participants (IPD)

Prévoyez-vous de partager les données individuelles des participants (DPI) ?

OUI

Description du régime IPD

Demographics, baseline assessments, completion assessments, adverse events.

Délai de partage IPD

July 1, 2028 until July 1, 2029

Critères d'accès au partage IPD

Supplemental data with paper when published. Other interested parties can reach out to comi@kennedykrieger.org to discuss other arrangements.

Type d'informations de prise en charge du partage d'IPD

  • SÈVE

Informations sur les médicaments et les dispositifs, documents d'étude

Étudie un produit pharmaceutique réglementé par la FDA américaine

Oui

Étudie un produit d'appareil réglementé par la FDA américaine

Non

Ces informations ont été extraites directement du site Web clinicaltrials.gov sans aucune modification. Si vous avez des demandes de modification, de suppression ou de mise à jour des détails de votre étude, veuillez contacter register@clinicaltrials.gov. Dès qu'un changement est mis en œuvre sur clinicaltrials.gov, il sera également mis à jour automatiquement sur notre site Web .

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