A Phase 0 Non-interventional, Multi-center, Natural History Study in Pediatric Patients with Syntaxin Binding Protein 1 (STXBP1) Encephalopathy with Epilepsy
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 入组人数
- 20
- 主要终点
- Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Day 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
结局指标
主要结局
Changes in neurodevelopment parameters over time utilizing an age appropriate assessment.
时间窗: 2 Years
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.
Changes in seizure frequency over time
时间窗: 2 Years
Seizure diary
Changes in neurodevelopmental parameters of adaptive behavior function over time utilizing the Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
时间窗: 2 Years
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.
次要结局
- Changes in electroencephalogram (EEG) recording over time(2 Years)
- Changes in communication ability over time(2 Years)
- Changes in sleep behavior over time(2 Years)
- Changes in motor function over time utilizing an age appropriate assessment.(2 Years)