Clinical trial NCT05462054: Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy
Official title: A Phase 0 Non-interventional, Multi-center, Natural History Study in Pediatric Patients with Syntaxin Binding Protein 1 (STXBP1) Encephalopathy with Epilepsy
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: STXBP1 Encephalopathy with Epilepsy
Keywords: STXBP1
Epilepsy
Seizures
Epileptic encephalopathy
Genetic Diseases, Inborn
Lead sponsor: Capsida Biotherapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2022-07-18
Enrollment: 0
Sex: ALL
Minimum age (years): 1
Maximum age (years): 5
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: ≤5 years of age with STXBP1 related encephalopathy with epilepsy.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
timeFrame: 2 Years
measure: Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
timeFrame: 2 Years
measure: Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
timeFrame: 2 Years
measure: Changes in seizure frequency over time
timeFrame: 2 Years
Secondary outcomes:
measure: Changes in communication ability over time
timeFrame: 2 Years
measure: Changes in sleep behavior over time
timeFrame: 2 Years
measure: Changes in electroencephalogram (EEG) recording over time
timeFrame: 2 Years
measure: Changes in motor function over time utilizing an age appropriate assessment.
timeFrame: 2 Years
measure: Changes in motor function over time utilizing an age appropriate assessment.
timeFrame: 2 Years
Other outcomes:
Locations:
Study officials:
affiliation: Capsida Biotherapeutics, Inc.
name: Medical Monitor, MD
role: STUDY_DIRECTOR
References: