An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA) Due to MAPK8IP3 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
- Motor Skills
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 Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous pathogenic missense mutation in MAPK8IP3
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 NEDBA due to a heterozygous pathogenic missense mutation in MAPK8IP3
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
- 5 Years 至 5 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 neurodevelopmental disorder due to MAPK8IP3 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-MAPK8-001 (Drug)
结局指标
主要结局
Motor Skills
时间窗: Baseline to 24 months
Change in gross motor function from baseline to 12- and 24-months post nL-MAPK8-001 administration as measured by distance, velocity, acceleration, movement shape, and entropy of movement captured on wrist and ankle accelerometers.
次要结局
- Seizure Onset(Baseline to 24 months)
- Respiratory Infections(Baseline to 24 months)
- Sleep Quality(Baseline to 24 months)
- Quality of Life(Baseline to 24 months)
- Safety and Tolerability(Baseline to 24 months)
- Incidence of Treatment-Emergent Abnormalities in Neurological Exam [Safety and Tolerability](Baseline to 24 months)
- Incidence of Treatment Emergent Abnormalities in safety labs (CSF, chemistry, hematology, coagulation, urinalysis) [Safety and Tolerability](Baseline to 24 months)