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

24 agosto 2026 aggiornato da: 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.

Panoramica dello studio

Stato

Non ancora reclutamento

Condizioni

Intervento / Trattamento

Descrizione dettagliata

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 di studio

Interventistico

Iscrizione (Stimato)

10

Fase

  • Fase 2

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Backup dei contatti dello studio

Luoghi di studio

  • Stati Uniti
    • Maryland
      • Baltimore, Maryland, Stati Uniti, 21205
        • Kennedy Krieger Institute
        • Contatto:
        • Contatto:
        • Investigatore principale:
          • Ryan Felling, MD, PhD

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

  • Bambino

Accetta volontari sani

No

Descrizione

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.

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

  • Scopo principale: Trattamento
  • Assegnazione: N / A
  • Modello interventistico: Assegnazione di gruppo singolo
  • Mascheramento: Nessuno (etichetta aperta)

Armi e interventi

Gruppo di partecipanti / Arm
Intervento / Trattamento
Sperimentale: 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.
Altri nomi:
  • Cannabidiolo
  • CBD

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Lasso di tempo
Safe completion as assessed by the number of participants with no significant side effects
Lasso di tempo: 6 months
6 months
Safe completion as assessed by the number of participants with no seizure onset
Lasso di tempo: 6 months
6 months

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
Sturge-Weber Syndrome Neuroscore (SWS-NRS)
Lasso di tempo: 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
Lasso di tempo: 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)
Lasso di tempo: 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)
Lasso di tempo: 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)
Lasso di tempo: 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

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

Johns Hopkins University

Collaboratori

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

Investigatori

  • Investigatore principale: Ryan Felling, MD, PhD, Johns Hopkins School of Medicine

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Stimato)

1 agosto 2026

Completamento primario (Stimato)

1 luglio 2028

Completamento dello studio (Stimato)

1 luglio 2028

Date di iscrizione allo studio

Primo inviato

18 agosto 2026

Primo inviato che soddisfa i criteri di controllo qualità

20 agosto 2026

Primo Inserito (Effettivo)

21 agosto 2026

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

26 agosto 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

24 agosto 2026

Ultimo verificato

1 agosto 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • IRB00326943

Piano per i dati dei singoli partecipanti (IPD)

Hai intenzione di condividere i dati dei singoli partecipanti (IPD)?

SÌ

Descrizione del piano IPD

Demographics, baseline assessments, completion assessments, adverse events.

Periodo di condivisione IPD

July 1, 2028 until July 1, 2029

Criteri di accesso alla condivisione IPD

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

Tipo di informazioni di supporto alla condivisione IPD

  • LINFA

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

Sì

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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