An Open-label, Single-center, Single-participant Study of an Experimental Antisense Oligonucleotide Treatment for a Patient With LMNB1 Mutation Associated Autosomal Dominant Leukodystrophy (ADLD)
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
- Gait
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 Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation
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 Autosomal Dominant Leukodystrophy (ADLD) due to LMNB1 mutation
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
- 51 Years 至 51 Years（Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Informed consent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- •Autosomal dominant adult-onset leukodystrophy (ADLD) caused by an LMNB1 duplication mutation
- •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.
- •Willingness to follow contraceptive guidance during the intervention period and for at least 40 weeks after the last dose of study intervention
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
干预措施: nL-LMNB1-001 (Drug)
结局指标
主要结局
Gait
时间窗: Baseline to 24 months
Change in gait from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by gait motion analysis
Neurological functioning
时间窗: Baseline to 24 months
Change in neurological functioning results from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by formal neuro-psychological evaluation (abnormalities in cognitive functioning such as memory, visual function, and language function).
Brain atrophy
时间窗: Baseline to 24 months
Change in degree of brain atrophy from baseline at 6-, 12-, 18- and 24-months post nL-LMNB1-001 administration as measured by brain MRI
次要结局
- Incidence of Treatment-Emergent abnormalities in physical and neurological exams [Safety and Tolerability](Baseline to 24 months)
- Urodynamics(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)
- Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability](Baseline to 24 months)
- Autonomic function(Baseline to 24 months)