An Open-Label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Amyotrophic Lateral Sclerosis (ALS) Due to an Arg15Leu Pathogenic Variant in CHCHD10
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
- 2
- 主要终点
- Clinical Functioning
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 amyotrophic lateral sclerosis (ALS) due to a pathogenic variant in CHCHD10
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
- 63 Years 至 63 Years（Adult）
- 性别
- All
- 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 stie and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- •Genetically confirmed neurological disorder.
排除标准
- •Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
- •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-CHCHD-001 (Drug)
结局指标
主要结局
Clinical Functioning
时间窗: Baseline to 12 months
Change from baseline at 12-months post nL-CHCHD-001 administration in scores on Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R). A maximum score of 48 represents normal functioning, and the minimum score is 0.
Motor Functioning
时间窗: Baseline to 12 months
Change from baseline at 12-months post nL-CHCHD-001 administration in scores on Slow Vital Capacity (SVC) Performance.
Clinical Functioning
时间窗: Baseline to 12 months
Change from baseline at 12-months post nL-CHCHD-001 administration in scores on Amyotrophic Lateral Sclerosis Assessment Questionnaire 5 (ALSAQ-5)
Motor Functioning
时间窗: Baseline to 12 months
Change from baseline at 12-months post nL-CHCHD-001 administration in scores on Handheld Dynamometry (HHD).
次要结局
- Safety and Tolerability(Baseline to 12 months)
- Disease Biomarkers(Baseline to 12 months)
- Safety and Efficacy(Baseline to 12 months)