EXploring novEl Molecular Determinants of DRAvet Syndrome Phenotype Heterogeneity

Plain-language summary

This study investigates the molecular determinants behind why Dravet Syndrome varies from person to person (phenotype variability), using a skin punch biopsy. It enrolls people aged 18-35 with a confirmed diagnosis of Dravet Syndrome who carry a disease-causing variant in the SCN1A gene. It is a study with no assigned phase and is enrolling participants by invitation.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Enrolling by invitation

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Intervention

skin punch biopsy

Start date

7/6/2023

Estimated completion

5/31/2026

Countries

Italy

Related genes

Locations

• Roma, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* Confirmed clinical diagnosis of Dravet Syndrome;
* Identification of a pathogenic variant in the SCN1A gene;
* Age between 18 and 35 years.

Exclusion Criteria:

\- The presence of a significant neurological condition unrelated to Dravet Syndrome.