Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy

A Phase 0 Non-interventional, Multi-center, Natural History Study in Pediatric Patients with Syntaxin Binding Protein 1 (STXBP1) Encephalopathy with Epilepsy

This is a prospective, non-interventional, longitudinal study designed to characterize the natural history of STXBP1 related encephalopathy with epilepsy, in participants ≤ <5 years of age.

Inclusion Criteria:

• Male or female, > 1 day to ≤ 5 years of age at the time of informed consent.
• Diagnosed with seizure disorder
• Presence of a STXBP1 gene mutation. Historical documentation is sufficient to support eligibility for the study. Confirmatory testing will be obtained at baseline and performed by a CLIA certified laboratory
• Written informed consent provided by a parent or legal guardian

Exclusion Criteria:

• History of prior gene therapy treatment
• Current enrollment in an interventional study or has received an investigational drug within 30 days or fewer than 5 half-lives prior to screening visit, whichever is longer
• Treatment with any antisense oligonucleotide therapy within 6 months prior to screening and anticipate remaining on treatment throughout the study
• The presence of a confirmed mutation in a gene other than STXPB1 that is known to contribute to a neurodevelopmental disability
• Presence of a significant non-STXBP1 related central nervous impairment/behavioral disturbance that would confound the scientific rigor or interpretation of results of the study
• History of prematurity (defined as gestational age <35 weeks), interventricular hemorrhage, structural brain deficit or congenital heart disease
• Requires mechanical ventilation or non-invasive respiratory support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) at the time of informed consent