An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Dentatorubral-pallidoluysian Atrophy (DRPLA) Due to ATN1 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
- 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
- 22 Years 至 —（Adult, Older Adult）
- 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-ATN1-001 (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) (changes in frequency of ictal and interictal discharges, evoked potentials, and changes in EEG background)
次要结局
- Quality of Life and Caregiver Burden(Baseline to 24 months)
- Health Status(Baseline to 24 months)
- Dysphagia(Baseline to 24 months)
- Incidence and Severity 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)