NCT07226297Enrolling By Invitation1 期
An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Charcot-Marie-Tooth Type 2D Due to GARS1 Genetic Mutation
干预措施
试验速览
- 阶段
- 1 期
- 状态
- Enrolling By Invitation
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Motor Skills
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 Charcot-Marie-Tooth disease type 2D (CMT2D) due to a pathogenic, de novo deletion mutation in GARS1
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 CMT2D due to a pathogenic, de novo deletion mutation in GARS1
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
- 13 Years 至 —（Child, Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Informed consent/assent provided by the participant (when appropriate), and/or the 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 GARS1 genetic variant
排除标准
- •Participant has any condition that, in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
研究组 & 干预措施
Open Label
Experimental
干预措施: nL-GARS1-001 (Drug)
结局指标
主要结局
Motor Skills
时间窗: Baseline to 24 months
Change in gross motor skills from baseline to 12- and 24-months post nL-GARS1-001 administration as measured by the annualized rate of change on home videography assessment
次要结局
- Quality of Life(Baseline to 24 months)
- Functional Skills(Baseline to 24 months)
- Safety and Tolerability(Baseline to 24 months)
- Incidence of Treatment-Emergent Abnormalities in Physical Exam [Safety and Tolerability](Baseline to 24 months)
- Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability](Baseline to 24 months)
- Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability](Baseline to 24 months)
研究者
研究点 (1)
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