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

Encoded Therapeutics

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Dravet Syndrome

Treatments: Drug: ETX101

Study type: Interventional

Funder types: Industry

Identifiers

NCT06283212

ETX-DS-005

Details and patient eligibility

About

EXPEDITION is a Phase 1/2 study in the UK to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet Syndrome aged 6 to < 48 months. The study follows and open-label, dose-escalation design.

Enrollment: 5 patients

Sex: All

Ages: 6 to 47 months old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Sequential Assignment

Masking: None (Open label)

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5 participants in 4 patient groups

Cohort A

Experimental group

Description:

Cohort A will evaluate ETX101 dose level 1.

Treatment:

Drug: ETX101

Cohort B

Experimental group

Description:

Cohort B will evaluate ETX101 dose level 2.

Treatment:

Drug: ETX101

Cohort C

Experimental group

Description:

Cohort C will evaluate ETX101 dose level 3.

Treatment:

Drug: ETX101

Cohort D

Experimental group

Description:

Cohort D will evaluate ETX101 dose level 4.

Treatment:

Drug: ETX101