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

24 de agosto de 2026 actualizado por: 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.

Descripción general del estudio

Estado

Aún no reclutando

Condiciones

Intervención / Tratamiento

Descripción detallada

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.

Tipo de estudio

Intervencionista

Inscripción (Estimado)

10

Fase

  • Fase 2

Contactos y Ubicaciones

Esta sección proporciona los datos de contacto de quienes realizan el estudio e información sobre dónde se lleva a cabo este estudio.

Estudio Contacto

Copia de seguridad de contactos de estudio

Ubicaciones de estudio

  • Estados Unidos
    • Maryland
      • Baltimore, Maryland, Estados Unidos, 21205
        • Kennedy Krieger Institute
        • Contacto:
        • Contacto:
        • Investigador principal:
          • Ryan Felling, MD, PhD

Criterios de participación

Los investigadores buscan personas que se ajusten a una determinada descripción, denominada criterio de elegibilidad. Algunos ejemplos de estos criterios son el estado de salud general de una persona o tratamientos previos.

Criterio de elegibilidad

Edades elegibles para estudiar

  • Niño

Acepta Voluntarios Saludables

No

Descripción

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 de estudios

Esta sección proporciona detalles del plan de estudio, incluido cómo está diseñado el estudio y qué mide el estudio.

¿Cómo está diseñado el estudio?

Detalles de diseño

  • Propósito principal: Tratamiento
  • Asignación: N / A
  • Modelo Intervencionista: Asignación de un solo grupo
  • Enmascaramiento: Ninguno (etiqueta abierta)

Armas e Intervenciones

Grupo de participantes/brazo
Intervención / Tratamiento
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.
Droga: 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.
Otros nombres:
  • Cannabidiol
  • CDB

¿Qué mide el estudio?

Medidas de resultado primarias

Medida de resultado
Periodo de tiempo
Safe completion as assessed by the number of participants with no significant side effects
Periodo de tiempo: 6 months
6 months
Safe completion as assessed by the number of participants with no seizure onset
Periodo de tiempo: 6 months
6 months

Medidas de resultado secundarias

Medida de resultado
Medida Descripción
Periodo de tiempo
Sturge-Weber Syndrome Neuroscore (SWS-NRS)
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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)
Periodo de tiempo: 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)
Periodo de tiempo: 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

Colaboradores e Investigadores

Aquí es donde encontrará personas y organizaciones involucradas en este estudio.

Patrocinador

Johns Hopkins University

Colaboradores

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

Investigadores

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

Fechas de registro del estudio

Estas fechas rastrean el progreso del registro del estudio y los envíos de resultados resumidos a ClinicalTrials.gov. Los registros del estudio y los resultados informados son revisados ​​por la Biblioteca Nacional de Medicina (NLM) para asegurarse de que cumplan con los estándares de control de calidad específicos antes de publicarlos en el sitio web público.

Fechas importantes del estudio

Inicio del estudio (Estimado)

1 de agosto de 2026

Finalización primaria (Estimado)

1 de julio de 2028

Finalización del estudio (Estimado)

1 de julio de 2028

Fechas de registro del estudio

Enviado por primera vez

18 de agosto de 2026

Primero enviado que cumplió con los criterios de control de calidad

20 de agosto de 2026

Publicado por primera vez (Actual)

21 de agosto de 2026

Actualizaciones de registros de estudio

Última actualización publicada (Actual)

26 de agosto de 2026

Última actualización enviada que cumplió con los criterios de control de calidad

24 de agosto de 2026

Última verificación

1 de agosto de 2026

Más información

Términos relacionados con este estudio

Palabras clave

Términos MeSH relevantes adicionales

Otros números de identificación del estudio

  • IRB00326943

Plan de datos de participantes individuales (IPD)

¿Planea compartir datos de participantes individuales (IPD)?

SÍ

Descripción del plan IPD

Demographics, baseline assessments, completion assessments, adverse events.

Marco de tiempo para compartir IPD

July 1, 2028 until July 1, 2029

Criterios de acceso compartido de IPD

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

Tipo de información de apoyo para compartir IPD

  • SAVIA

Información sobre medicamentos y dispositivos, documentos del estudio

Estudia un producto farmacéutico regulado por la FDA de EE. UU.

Sí

Estudia un producto de dispositivo regulado por la FDA de EE. UU.

No

Esta información se obtuvo directamente del sitio web clinicaltrials.gov sin cambios. Si tiene alguna solicitud para cambiar, eliminar o actualizar los detalles de su estudio, comuníquese con register@clinicaltrials.gov. Tan pronto como se implemente un cambio en clinicaltrials.gov, también se actualizará automáticamente en nuestro sitio web. .

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