Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation

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.

NCT Number	NCT07251673
Lead Sponsor	Assistance Publique - Hôpitaux de Paris Collaborators: Encoded Therapeutics
Conditions	Dravet Syndrome
Enrollment	50 participants
Start Date	2025-09-15
Primary Completion	2030-10-01 (estimated)
Study Completion	2030-10-01 (estimated)
Updated on ClinicalTrials.gov	2026-02-03