NCT07084311进行中（未招募）1 期
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for ATN1 Mutation Associated Dentatorubral-pallidoluysian Atrophy (DRPLA)
干预措施
相关药物
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
- Seizures
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
- 29 Years 至 29 Years（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 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.
- •Clinical phenotype and neuroimaging consistent with a diagnosis of ATN1 mutation associated Dentatorubral-pallidoluysian atrophy (DRPLA).
- •Documented genetic mutation in ATN1.
排除标准
- •Participant has any known contraindication to or unwillingness to undergo lumbar puncture.
- •Use of investigational medication within 5 half-lives of the drug at enrollment.
- •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-ATN1-002 (Drug)
结局指标
主要结局
Seizures
时间窗: Baseline to 24 months
Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by routine electroencephalography (EEG)
次要结局
- Quality of Life and Caregiver Burden(24 months)
- Health Status(24 months)
- Incidence and Severity of Treatment Emergent Adverse Events [Safety and Tolerability](24 months)
- Incidence of Treatment-Emergent Abnormalities in Physical and Neurological Exams [Safety and Tolerability](24 months)
- Incidence of Treatment-Emergent Abnormalities in Safety Labs (CSF, chemistry, hematology, coagulation, and urinalysis) [Safety and Tolerability](24 months)
研究者
研究点 (2)
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