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
263 weeks
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 SCN1A gene mutation is a developmental and epileptic encephalopathy characterized by treatment-resistant epilepsy and global developmental delay. Despite the considerable attention recently Dravet syndrome (DS) in drug development, studies characterising the progression of the neurodevelopmental phenotype over time remain limited. In particular, many previous studies of natural history studies have been of short duration or have focused only on a subgroup of the paediatric population. This prospective natural history study is being conducted to define more precisely the neurodevelopmental trajectory of SCN1A-positive Dravet syndrome in patients aged aged 6 months to 21 years with SCN1A mutations. The study will examine these characteristics over a 4-year period using standardised assessments. The study will also explore potential metabolomic biomarkers and their relationship with clinical outcomes.
CONDITIONS
Official 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 their legal representative must be able to give informed consent to participate.
- The participant or legal representative must be able to follow the study protocol as judged by the investigator.
- Patient is between 6 months and 21 years old at the time of consent.
- The patient has a confirmed pathogenic or probably pathogenic variant in the SCN1A gene.
- The patient had normal development before their first seizure.
- The first epileptic seizure occurred between 3 and 15 months of age.
- The patient is currently taking at least one of these anti-epileptic drugs: brivaracetam, clobazam, cannabidiol, fenfluramine, levetiracetam, sodium valproate, stiripentol, or topiramate.
You will not qualify if you...
- The patient has a copy number variation of the SCN1A gene affecting other genes, including microdeletion of SCN1A.
- The patient has mutations in both alleles of the SCN1A gene.
- The patient has a known or suspected pathogenic mutation in a gene related to epilepsy other than SCN1A.
- The patient has a genetic mutation or clinical condition likely to disrupt the typical Dravet syndrome phenotype.
- The patient has a known gain-of-function mutation, including p.Thr226Met.
- The patient had neurodevelopmental abnormalities before seizure onset.
- The patient has been seizure free for one year before consent.
- The patient has taken certain antiepileptic drugs causing worsening effects for 6 or more weeks, including carbamazepine, eslicarbazepine, lacosamide, lamotrigine, oxcarbazepine, phenytoin, tiagabine, or vigabatrin.
- The patient has received innovative treatments like antisense oligonucleotides, gene therapy, or cell therapy.
- The patient has a brain structural abnormality considered an epileptogenic lesion by the investigator.
AI-Screening
AI-Powered Screening
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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
CONTACT
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
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