An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Gene Mutation
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
- Ataxia
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 dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
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 DRPLA due to a heterozygous pathogenic CAG trinucleotide expansion in ATN1
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
- 17 Years 至 17 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 Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation
排除标准
- •Use of investigational medication within 5 half-lives of the drug at enrolment
- •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
干预措施: nL-ATN1-002 (Drug)
结局指标
主要结局
Ataxia
时间窗: Baseline to 24 months
Change in mobility and ataxia from baseline to 6-, 12-, 18- and 24-months post nL-ATN1-002 administration as measured by home gait video assessment (reviewed by blinded rater using gait and stance rating criteria from the SARA).
次要结局
- Seizures(Baseline to 24 months)
- Quality of Life(Baseline to 24 months)
- Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability](Baseline to 24 months)
- Incidence of Treatment-Emergent abnormalities in physical and neurological exams [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)