A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome

Plain-language summary

This study evaluates the safety and effectiveness of a gene therapy called ETX101, delivered via AAV9, in children with Dravet syndrome caused by changes in the SCN1A gene. It enrolled children who carry a loss-of-function SCN1A variant, had their first seizure between 3 and 15 months of age, and are taking at least one preventive antiseizure medication. The study is being conducted in Phase 1/Phase 2 and is currently active but not recruiting new participants.

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

Trial details

Phase

PHASE1/PHASE2

Status

Active, not recruiting

Sponsor

Encoded Therapeutics

Intervention

ETX101

Start date

5/9/2024

Estimated completion

10/1/2030

Countries

United Kingdom

Related genes

Locations

• Glasgow, United Kingdom
• London, United Kingdom
• Sheffield, United Kingdom

Eligibility criteria

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

Inclusion Criteria:

* Participant has a predicted loss of function pathogenic or likely pathogenic SCN1A variant
* Participant must have experienced their first seizure between the age of 3 and 15 months
* Participant must have a clinical diagnosis of Dravet syndrome or the treating clinician must have high clinical suspicion of a diagnosis of Dravet syndrome
* Participant is receiving at least one prophylactic antiseizure medication

Exclusion Criteria:

* Participant has another genetic mutation or clinical comorbidity which could potentially confound the typical Dravet phenotype
* Participant has a known central nervous system structural and/or vascular abnormality (indicated by an MRI or CT scan of the brain).
* Participant has an abnormality that may interfere with CSF distribution and/or has an existing ventriculoperitoneal shunt.
* Participant is currently taking or has taken antiseizure medications (ASMs) at a therapeutic dose that are contraindicated in Dravet syndrome, including sodium channel blockers.
* Participant has experienced seizure freedom for a period of 4 consecutive weeks within the 90-day period prior to informed consent.
* Participant has previously received gene or cell therapy.
* Participant is currently enrolled in a clinical trial or receiving an investigational therapy.
* Participant has clinically significant underlying liver disease.