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
- 进行中（未招募）
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD)
研究概览
简要总结
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
详细描述
The study is an investigational interventional drug created for the study subject's specific pathogenic genetic 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
- 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
- •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 enrollment
- •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-TUBB4-001 (Drug)
结局指标
主要结局
Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD)
时间窗: baseline to 12 and 24 months
The Barry Albright Dystonia Scale (BAD) is a clinical tool designed to evaluate the severity of dystonia in children. This scale assesses dystonia in eight different body regions including the eyes, mouth, neck, trunk, and each of the four limbs. Each region is scored on a severity scale from 0 (no dystonia) to 4 (severe dystonia), allow for quantification of the overall dystonia as well as distribution of dystonic movements across the body. The BAD will be performed at each study timepoint as specified by SoA by the same trained and qualified administrator.
Dystonia and gross motor function as measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS)
时间窗: baseline to 12 and 24 months
The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) assesses the severity of dystonia as well as its impact on daily life. It consists of two main components: the Movement Scale, which scores dystonia in various body regions such as the eyes, mouth, neck, trunk, and limbs on a scale from 0 (no dystonia) to 4 (severe dystonia), and the Disability Scale, which evaluates the impact of dystonia on daily activities (e.g., feeding, hygiene, dressing, etc.).
Dystonia and gross motor function as measured by Gross Motor Function Measure-88 (GMFM-88)
时间窗: baseline to 12 and 24 months
The Gross Motor Function Measure-88 (GMFM-88) evaluates changes in gross motor function in children with conditions that affect gross motor abilities. Motor function is assessed through 88 tasks across five dimensions: lying and rolling, sitting, crawling, and kneeling, standing, and walking, running, and jumping. Each item is scored on a four-point ordinal scale based on observed performance, providing quantification of gross motor function and the ability to track progress or regression over time.
Dystonia and gross motor function as measured by Vineland Adaptive Behavior Scales
时间窗: baseline to 12 and 24 months
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), is a standardized, validated, and reliable assessment tool designed to measure the adaptive behavior of individuals from birth through adulthood. The Vineland-3 Motor Skills domain evaluates gross and fine motor abilities in individuals from birth to age 9, offering insights into coordination, balance, mobility, and dexterity. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.
次要结局
- Communication, behavioral and cognitive skills measured by The Vineland Adaptive Behavior Scales(baseline to 12 and 24 months)
- Communication, behavioral and cognitive skills measured bythe Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4)(baseline to 12 and 24 months)
- Quality of life as measured by PedsQL Family Impact Module(baseline to 6-, 12-, 18-, and 24-months)
研究者
Olivia Kim-McManus
Professor, Neurosiences
University of California, San Diego