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

Phase 2Active Not RecruitingNCT06112275

Encoded Therapeutics4 enrolled

Overview

WAYFINDER is a Phase 1/2 study in Australia to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged 6 to \<84 months. The study follows an open-label, dose-escalation design.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Dravet Syndrome

Interventions

ETX101DRUG

ETX101 is composed of a non-replicating, recombinant adeno-associated viral serotype 9 (rAAV9) vector used to deliver a GABAergic regulatory element (reGABA) and an engineered transcription factor that increases transcription of the SCN1A gene (eTFSCN1A).

Eligibility

Sex: ALLMin age: 6 MonthsMax age: 83 Months

Medical Language ↔ Plain English

Inclusion Criteria: * Participant must have a predicted loss of function pathogenic or likely pathogenic SCN1A variant. * Participant must have experienced their first seizure between the ages of 3 and 15 months. * Participant must have a clinical diagnosis of Dravet syndrome or the treating clinician must have a 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 6-month 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.

Locations (1)

The Royal Children's Hospital

Melbourne, Australia

Outcomes

Primary Outcomes

Proportion of participants experiencing any treatment-emergent adverse events (AEs), serious adverse events (SAEs), related AEs, AEs with severity Grade ≥ 3, AEs resulting in study discontinuation, and AEs with a fatal outcome.

Time frame: Day 1 through Study Completion, an average of 5 years

Percent change from Baseline in monthly countable seizure frequency (MCSF) at Week 52, with countable seizures defined as generalized tonic-clonic/clonic, focal motor with clearly observable clinical signs, tonic bilateral, and atonic seizures.

Time frame: Between the 8-week baseline period and the 48-week post-dosing assessment period (defined as Week 5 to Week 52 following administration of ETX101)

Proportion of participants free from episodes of prolonged seizures and/or status epilepticus at Week 52.

Time frame: Week 5 through Week 52

Secondary Outcomes

Proportion of participants with ≥ 90% reduction in monthly countable seizure frequency (MCSF) from Baseline at Week 52.

Time frame: Between the 8-week baseline period and the 48-week post-dosing assessment period (defined as Week 5 to Week 52 following administration of ETX101)

Change from Baseline in the Vineland-Third Edition Expressive Communication raw score at Week 52.

Time frame: Baseline through Week 52. Higher scores correspond to better outcomes.

Data from ClinicalTrials.gov

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