Actively Recruiting
Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-02-03
50
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
A
Assistance Publique - Hôpitaux de Paris
Lead Sponsor
E
Encoded Therapeutics
Collaborating Sponsor
AI-Summary
What this Trial Is About
Dravet syndrome with an SCN1A gene mutation is a severe developmental and epileptic condition marked by treatment-resistant seizures and delayed overall development. Researchers are conducting a prospective natural history study to better understand how the neurodevelopmental profile of patients with SCN1A-positive Dravet syndrome evolves over time, focusing on children and young adults aged 6 months to 21 years over a four-year span. The study aims to fill gaps left by previous shorter or narrower studies and will also explore metabolomic biomarkers related to clinical outcomes. Participants will undergo initial baseline assessments including medical history, seizure details, genetic diagnosis, and current treatments. Standardized tools such as the Vineland-3 for adaptive behavior, GMFM-66 for motor function, CGI scales for clinical impressions, and Bayley-IV for developmental evaluation (up to 8 years old) will be used. Blood samples will be taken for metabolomic analysis including serum GABA levels. Annual visits for four years will repeat these assessments and collect updated medical information, tracking the progression of the syndrome. Throughout the study, participants will have detailed evaluations by psychologists, physiotherapists, and clinicians, with assessments conducted at baseline and yearly for four years. Researchers will monitor clinical changes, developmental progress, and biochemical markers. At the study's end, a comprehensive report will summarize the clinical and functional evolution of Dravet syndrome in the cohort. This longitudinal follow-up will provide valuable insights into the course of the condition and potential biomarker associations.
CONDITIONS
Brief Title
Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
Who Can Participate
Eligibility Criteria
You may qualify if you...
- The patient or legal representative must be able to give informed consent for participation.
- The participant or legal representative must be able to comply with the research protocol.
- Patient aged between 6 months and 21 years inclusive at consent.
- Confirmed pathogenic or probably pathogenic SCN1A gene variant by genetic test.
- Normal development before first seizure onset.
- Onset of epileptic seizures between 3 and 15 months inclusive.
- Receiving at least one of the following anti-epileptic drugs: brivaracetam, clobazam, cannabidiol, fenfluramine, levetiracetam, sodium valproate, stiripentol, topiramate.
You will not qualify if you...
- Copy number variation of SCN1A gene affecting other genes, including microdeletion.
- Mutation in SCN1A gene on both alleles.
- Known or suspected pathogenic mutation in epilepsy-related genes other than SCN1A.
- Concomitant genetic mutation or clinical comorbidity likely to disrupt typical Dravet syndrome phenotype.
- Known gain-of-function mutation such as p.Thr226Met.
- History of neurodevelopmental abnormality before seizures.
- Seizure free for one year prior to consent.
- Use of antiepileptic drugs worsening seizures for 6+ weeks, including carbamazepine, eslicarbazepine, lacosamide, lamotrigine, oxcarbazepine, phenytoin (chronic), tiagabine, vigabatrin.
- Previous treatment with innovative therapies such as antisense oligonucleotides, gene therapy, or cell therapy.
- Structural brain abnormalities on imaging considered epileptogenic lesion by investigator.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants attend an initial visit to collect demographic, historical, and clinical data, including detailed medical assessments and blood tests for metabolomic analysis.
1 visit (in-person)
Duration - 4 years
Participants are followed annually for 4 years with assessments to document clinical progress, including medical updates, clinical scales, and blood tests for metabolomic analysis.
Annual visits for 4 years
Trial Site Locations
Total: 1 location
1
Robert Debré Hospital
Paris, Ap-hp / DRCI, France, 75019
Actively Recruiting
Research Team
S
Stéphane Auvin, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here