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

24 de agosto de 2026 atualizado 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.

Visão geral do estudo

Status

Ainda não está recrutando

Condições

Intervenção / Tratamento

Descrição detalhada

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 estudo

Intervencional

Inscrição (Estimado)

10

Estágio

  • Fase 2

Contactos e Locais

Esta seção fornece os detalhes de contato para aqueles que conduzem o estudo e informações sobre onde este estudo está sendo realizado.

Contato de estudo

Estude backup de contato

Locais de estudo

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

Critérios de participação

Os pesquisadores procuram pessoas que se encaixem em uma determinada descrição, chamada de critérios de elegibilidade. Alguns exemplos desses critérios são a condição geral de saúde de uma pessoa ou tratamentos anteriores.

Critérios de elegibilidade

Idades elegíveis para estudo

  • Filho

Aceita Voluntários Saudáveis

Não

Descrição

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.

Plano de estudo

Esta seção fornece detalhes do plano de estudo, incluindo como o estudo é projetado e o que o estudo está medindo.

Como o estudo é projetado?

Detalhes do projeto

  • Finalidade Principal: Tratamento
  • Alocação: N / D
  • Modelo Intervencional: Atribuição de grupo único
  • Mascaramento: Nenhum (rótulo aberto)

Armas e Intervenções

Grupo de Participantes / Braço
Intervenção / Tratamento
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.
Medicamento: 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.
Outros nomes:
  • Canabidiol
  • CDB

O que o estudo está medindo?

Medidas de resultados primários

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

Medidas de resultados secundários

Medida de resultado
Descrição da medida
Prazo
Sturge-Weber Syndrome Neuroscore (SWS-NRS)
Prazo: 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
Prazo: 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)
Prazo: 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)
Prazo: 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)
Prazo: 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

É aqui que você encontrará pessoas e organizações envolvidas com este estudo.

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

Datas de registro do estudo

Essas datas acompanham o progresso do registro do estudo e os envios de resumo dos resultados para ClinicalTrials.gov. Os registros do estudo e os resultados relatados são revisados ​​pela National Library of Medicine (NLM) para garantir que atendam aos padrões específicos de controle de qualidade antes de serem publicados no site público.

Datas Principais do Estudo

Início do estudo (Estimado)

1 de agosto de 2026

Conclusão Primária (Estimado)

1 de julho de 2028

Conclusão do estudo (Estimado)

1 de julho de 2028

Datas de inscrição no estudo

Enviado pela primeira vez

18 de agosto de 2026

Enviado pela primeira vez que atendeu aos critérios de CQ

20 de agosto de 2026

Primeira postagem (Real)

21 de agosto de 2026

Atualizações de registro de estudo

Última Atualização Postada (Real)

26 de agosto de 2026

Última atualização enviada que atendeu aos critérios de controle de qualidade

24 de agosto de 2026

Última verificação

1 de agosto de 2026

Mais Informações

Termos relacionados a este estudo

Palavras-chave

Termos MeSH relevantes adicionais

Outros números de identificação do estudo

  • IRB00326943

Plano para dados de participantes individuais (IPD)

Planeja compartilhar dados de participantes individuais (IPD)?

SIM

Descrição do plano IPD

Demographics, baseline assessments, completion assessments, adverse events.

Prazo de Compartilhamento de IPD

July 1, 2028 until July 1, 2029

Critérios de acesso de compartilhamento IPD

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

Tipo de informação de suporte de compartilhamento de IPD

  • SEIVA

Informações sobre medicamentos e dispositivos, documentos de estudo

Estuda um medicamento regulamentado pela FDA dos EUA

Sim

Estuda um produto de dispositivo regulamentado pela FDA dos EUA

Não

Essas informações foram obtidas diretamente do site clinicaltrials.gov sem nenhuma alteração. Se você tiver alguma solicitação para alterar, remover ou atualizar os detalhes do seu estudo, entre em contato com register@clinicaltrials.gov. Assim que uma alteração for implementada em clinicaltrials.gov, ela também será atualizada automaticamente em nosso site .

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