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

NCT07251673 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2026-02-03

No results posted yet for this study

Summary

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

Sponsors & Collaborators

  • Encoded Therapeutics

    collaborator INDUSTRY

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Stéphane Auvin, MD, PhD · Assistance Publique Hopitaux de Paris

Eligibility

Min Age
6 Months
Max Age
21 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-09-15
Primary Completion
2030-10-01
Completion
2030-10-01

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07251673 on ClinicalTrials.gov