Evaluating a gene therapy for children with Dravet Syndrome

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

This study is testing a new gene therapy for young children with Dravet Syndrome to see if it is safe and helps improve their condition.

Quick facts

• Phase: Phase1; Phase2
• Study type: Interventional
• Enrollment: 4 (estimated)
• Ages: 6 Months to 47 Months
• Sex: All
• Sponsor: Encoded Therapeutics (Industry-sponsored)
• Locations: 3 sites (Glasgow and 2 other locations)
• Trial ID: NCT06283212 on ClinicalTrials.gov

What this trial studies

This clinical study aims to assess the safety and efficacy of ETX101, a gene therapy delivered via AAV9, in children aged 6 to less than 48 months who have SCN1A-positive Dravet Syndrome. The study is designed as an open-label, dose-escalation trial conducted in the UK. Participants must have a specific genetic variant and a clinical diagnosis of Dravet syndrome, and they will be monitored for their response to the treatment. The study seeks to provide insights into the potential of gene therapy as a treatment option for this severe condition.

Who should consider this trial

Good fit: Ideal candidates are children aged 6 to less than 48 months with a confirmed SCN1A mutation and a clinical diagnosis of Dravet syndrome.

Not a fit: Patients with other genetic mutations or significant comorbidities that could affect the study outcomes may not benefit from this therapy.

Why it matters

Potential benefit: If successful, this gene therapy could significantly improve seizure control and overall quality of life for children with Dravet Syndrome.

How similar studies have performed: While gene therapy for neurological conditions is an emerging field, this specific approach for Dravet Syndrome is novel and has not been extensively tested in prior studies.

Eligibility criteria

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.

Where this trial is running

Glasgow and 2 other locations

• Queen Elizabeth Hospital — Glasgow, United Kingdom (Recruiting)
• Great Ormond Street Hospital — London, United Kingdom (Not_yet_recruiting)
• Sheffield Children's Hospital — Sheffield, United Kingdom (Recruiting)

Study contacts

• Study coordinator: Encoded Patient Advocacy

Conditions Dravet Syndrome