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

Phase 1
Recruiting
Conditions
Dravet Syndrome
Registration Number
NCT06283212
Lead Sponsor
Encoded Therapeutics
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Recruiting
Sex
All
Target Recruitment
4
Inclusion Criteria

Inclusion Criteria:<br><br> - Participant has a predicted loss of function pathogenic or likely pathogenic SCN1A<br> variant<br><br> - Participant must have experienced their first seizure between the age of 3 and 15<br> months<br><br> - Participant must have a clinical diagnosis of Dravet syndrome or the treating<br> clinician must have high clinical suspicion of a diagnosis of Dravet syndrome<br><br> - Participant is receiving at least one prophylactic antiseizure medication<br><br>Exclusion Criteria:<br><br> - Participant has another genetic mutation or clinical comorbidity which could<br> potentially confound the typical Dravet phenotype<br><br> - Participant has a known central nervous system structural and/or vascular<br> abnormality (indicated by an MRI or CT scan of the brain).<br><br> - Participant has an abnormality that may interfere with CSF distribution and/or has<br> an existing ventriculoperitoneal shunt.<br><br> - Participant is currently taking or has taken antiseizure medications (ASMs) at a<br> therapeutic dose that are contraindicated in Dravet syndrome, including sodium<br> channel blockers.<br><br> - Participant has experienced seizure freedom for a period of 4 consecutive weeks<br> within the 90-day period prior to informed consent.<br><br> - Participant has previously received gene or cell therapy.<br><br> - Participant is currently enrolled in a clinical trial or receiving an<br> investigational therapy.<br><br> - Participant has clinically significant underlying liver disease.

Exclusion Criteria

Not provided

Study & Design

Study Type
Interventional
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Proportions 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 fatal outcome.;Change from baseline in the standard score of the Vineland Adaptive Behavior Scales - Third Edition Adaptive Behavior Composite at Week 52.
Secondary Outcome Measures
NameTimeMethod
Percent change in monthly countable seizure frequency (MCSF) to Week 52, with countable seizures defined as generalized tonic-clonic/clonic, focal motor with clearly observable clinical signs, tonic bilateral, and atonic seizures.;Change from baseline in the raw score of the Bayley Scales of Infant and Toddler Development® 4th Edition receptive language sub-domain at Week 52.
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