Natural History Study in Pediatric Patients with STXBP1 Encephalopathy with Epilepsy

NCT05462054 | Withdrawn

• 1 other identifier: CAP-002-501
• Study Type: observational
• Target: N/A
• Locations: 0 countries
• Sites: N/A

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.

Conditions

STXBP1 Encephalopathy with Epilepsy

Keywords

STXBP1; Epilepsy; Seizures; Epileptic encephalopathy; Genetic Diseases, Inborn

Outcome Measures

Primary Outcomes (4)

• Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores

  The Vineland Adaptive Behavior Scales, Second Edition (Survey Interview Form) is a measure of adaptive behavior in children, adolescents and adults. It yields an overall standard score (Adaptive Behavior Composite, ABC) and age standard scores in four domains. ABC scores have a mean of 100 and a standard deviation of 15 (range = 20 to 160). Higher scores suggest a higher level of adaptive functioning.

  2 Years

• Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.

  The determination of whether a patient received Bayley Scales of Infant Development-III (BSID-III) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The BSID-III is a series of measurements to assess the motor (fine and gross), language (receptive and expressive), and cognitive development of infants and toddlers and consists of a series of developmental play tasks. contains two scoring systems of composite scores and percentile ranks. The normal range for composite scores is between 40-160 with mean at 100 and 0-99 for the percentile ranks. Higher scores mean a better outcome.

  2 Years

• Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.

  The determination of whether a patient received Kaufman Assessment Battery for Children-II (KABC-II) is based on an algorithm that includes the patient's calendar age and VABS-II age-equivalent score (See Outcome 1). The KABC-II is an individually administered measure of processing and reasoning abilities. The scoring range is 69 and below through 131 or greater. Higher scores mean a better outcome.

  2 Years

• Changes in seizure frequency over time

  Seizure diary

  2 Years

Secondary Outcomes (5)

• Changes in communication ability over time

  2 Years

• Changes in sleep behavior over time

  2 Years

• Changes in electroencephalogram (EEG) recording over time

  2 Years

• Changes in motor function over time utilizing an age appropriate assessment.

  2 Years

• Changes in motor function over time utilizing an age appropriate assessment.

  2 Years

Eligibility Criteria

• Age: 1 Day - 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

≤5 years of age with STXBP1 related encephalopathy with epilepsy.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Capsida Biotherapeutics, Inc.: lead

Biospecimen

Retention: SAMPLES WITH DNA

STXBP1 gene mutation

MeSH Terms

Conditions

Epileptic Encephalopathy, Early Infantile, 4; Epilepsy; Seizures; Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Medical Monitor, MD

  Capsida Biotherapeutics, Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 5, 2022
• First Posted: July 18, 2022
• Study Start: October 1, 2024
• Primary Completion: January 1, 2026
• Study Completion: January 1, 2026
• Last Updated: October 18, 2024

Record last verified: 2024-10