An Open-label Single Center Study of an Experimental Antisense Oligonucleotide Treatment of a Participant With Schuurs-Hoeijmakers Syndrome Due to PACS1 Genetic Mutation
试验速览
- 阶段
- 1 期
- 状态
- 尚未招募
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Communication Ability
研究概览
简要总结
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug intended for a single participant with Schuurs-Hoeijmakers syndrome (SHMS) due to a pathogenic, de novo, heterozygous missense gain-of-function mutation in PACS1
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 SHMS due to a pathogenic, de novo, heterozygous missense gain-of-function mutation in PACS1
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
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Informed consent/assent provided by the 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 SHMS due to PACS1 gene mutationc.607C>T (p.Arg203Trp)
排除标准
- •Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures
- •Participation in another investigational trial within 3 months of study enrollment or planned participation during the 24-month trial
研究组 & 干预措施
Open Label
干预措施: nL-PACS1-001 (Drug)
结局指标
主要结局
Communication Ability
时间窗: Baseline to 24 months
Change in communication ability from baseline to 6-, 12-, 18-, and 24-months post nL-PACS1-001 administration as measured by Observer-Rated Communication Ability (ORCA) overall T-score
次要结局
- Fine Motor Skills(Baseline to 24 months)
- Safety and Tolerability(Baseline to 24 months)
- Incidence of Treatment-Emergent Abnormalities in Physical Exam [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, and urinalysis) [Safety and Tolerability](Baseline to 24 months)