An Open-Label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Bainbridge-Ropers Syndrome Due to ASXL3 Gene Variant
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
- Safety and Tolerability
研究概览
简要总结
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Bainbridge-Ropers Syndrome (BRPS) due to a pathogenic, de novo nonsense variant in ASXL3
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 participant with BRPS due to a pathogenic, de novo nonsense variant in ASXL3
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
- 年龄范围
- 4 Years 至 4 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s)
- •Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records
- •Genetically confirmed ASXL3 genetic variant
排除标准
- •Participant has any condition that, in the opinion of the Site Investigator, would ultimately prevent the completion of stud procedures
研究组 & 干预措施
Open Label
干预措施: nL-ASXL3-001 (Drug)
结局指标
主要结局
Safety and Tolerability
时间窗: Baseline to 24 months
Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in physical examination (changes in appearance, skin, neck, ears, nose, throat, heart/lungs, abdomen, lymph nodes, and extremities compared to baseline)
Incidence of Treatment Emergent Abnormalities in Neurological Exam [Safety and Tolerability]
时间窗: Baseline to 24 months
Changes from baseline to 12- and 24-months post nL-ASXL3-001 administration in neurological examination (changes in mental status, gait, cerebellar, cranial nerve, motor, reflex, and sensations compared to baseline)
Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, urinalysis) [Safety and Tolerability]
时间窗: Baseline to 24 months
Emergent abnormalities in laboratory analyses (results outside of normal range for CSF, chemistry, hematology, coagulation, and urinalysis)
Motor Skills
时间窗: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-ASXL-001 administration as measured by the Gross Motor Function Measure (GMFM 88/66)
次要结局
- Feeding Tolerance and Growth(Baseline to 24 months)
- Feeding tolerance and growth(Baseline to 24 months)
- Cognition, Communication, and Behavior(Baseline to 24 months)
- Quality of Life(Baseline to 24 months)