An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
试验速览
- 阶段
- 1 期
- 状态
- Enrolling By Invitation
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Neurological assessments
研究概览
简要总结
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
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 pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
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
盲法说明
Open label study
入排标准
- 年龄范围
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 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 TUBB4A-related leukodystrophy/Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
- •Documented genetic mutation in TUBB4A
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 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
Intervention
Open Label
干预措施: Antisense oligonucleotide treatment (ASO) (Drug)
结局指标
主要结局
Neurological assessments
时间窗: Baseline to 24 months
Change from baseline at 24 months post nL-TUBB4-001 administration in scores on the GMFM88, HINE-1, HINE-2, Bayley-4, and Vineland-3 developmental assessment scales, as well as the Tardieu Spasticity Scale and PedsQL Family Impact Module
次要结局
- Feeding and swallow evaluation(Baseline to 24 months)
- Safety and tolerability(Baseline to 24 months)
研究者
Florian Eichler
Director of the Center for Rare Neurological Diseases
Massachusetts General Hospital