Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Seizure frequency
研究概览
简要总结
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with SCN2A associated developmental epileptic encephalopathy
详细描述
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function SCN2A mutation associated with severe developmental epileptic encephalopathy.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Informed consent provided by the participant's parent(s)/guardian(s)
- •Ability to travel to the study site, adhere to study-related follow-up examinations and/or procedures, and provide access to participant's medical records.
- •Genetically confirmed mutation
排除标准
- •Use of an investigational medication within less than 5 half-lives of the drug at enrollment
研究组 & 干预措施
Open label
干预措施: nL-SCN2A-002 (Drug)
结局指标
主要结局
Seizure frequency
时间窗: Baseline to 24 months
As measured by caregiver provided seizure diary
Motor function as measured by the motor skills domain of Vineland Adaptive Behavior Scales
时间窗: Baseline to 24 months
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), is a standardized, validated, and reliable assessment tool designed to measure the adaptive behavior of individuals from birth through adulthood. The Vineland-3 Motor Skills domain evaluates gross and fine motor abilities in individuals from birth to age 9, offering insights into coordination, balance, mobility, and dexterity. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.
Motor function as measured by Dyskinetic Cerebral Palsy Functional Impact Scale
时间窗: Baseline to 24 months
The Dyskinetic Cerebral Palsy Functional Impact Scale (D-FIS) is an 18 item caregiver questionnaire that evaluates the impact of dyskinesia on daily functions. It is a validated assessment tool for children aged 2 years and 6 months to 18 years. It uses a 5-point ordinal scale, from 0 (no impact) to 4 (extreme impact), for each item and derives a total score from summing all 18 items. A higher score indicates more severe impact of dyskinesia and worse motor functioning.
Motor function as measured by the motor skills domain of Bayley Scales of Infant and Toddler Development
时间窗: Baseline to 24 months
The Bayley Scales of Infant and Toddler Development is a standardized, validated, and reliable assessment tool for evaluating developmental functioning in infants and toddlers. Its Motor Skills domain evaluates gross and fine motor abilities, including coordination, balance, and movement. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better motor development.
Gastrointestinal assessment as measured by the Bristol Stool Chart
时间窗: Baseline to 24 months
The Bristol Stool Chart categorizes human feces into seven types, from Type 1 (severe constipation) to Type 7 (diarrhea), with Types 3 and 4 considered normal.
次要结局
- Neurodevelopmental Function as measured by the Bayley Scales of Infant and Toddler Development(Baseline to 24 months)
- Neurodevelopmental Function as measured by Observer-Reported Communication Ability Measure(Baseline to 24 months)
- Neurodevelopmental Function as measured by Aberrant Behavior Checklist(Baseline to 24 months)
- Neurodevelopmental Function as measured by the Vineland Adaptive Behavior Scales(Baseline to 24 months)
研究者
Olivia Kim-McManus
Professor, Neurosciences
University of California, San Diego