Natural History Study for DNA Repair Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
- 试验地点
- 2
- 主要终点
- Longitudinal stability of cerebellar and gait function on neurological examination
研究概览
简要总结
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
详细描述
This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD). Our hypothesis is that a reliable and reproducible baseline natural history course can be established for DNA repair disorders using the Early Childhood Assessment of Balance (ECAB) as a primary endpoint and other measures as secondary and exploratory endpoints that may be used in future therapeutic clinical trials.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics l characteristics
- •Has one or more of the following neurodevelopmental or neurological complications
- •Gross motor delay (non-ambulatory or started walking after age 18 months)
- •Language delay (non-verbal or started talking after 18 months)
- •Altered muscle tone (hypertonia, dystonia, hypotonia)
- •Gait difficulties, including stiff gait, short stride, frequent falls, use of orthotics, use of walker
- •Microcephaly
- •Is a family member of an individual with the above condition
- •No restrictions regarding current ambulatory status
- •Minimum age for enrollment eligibility will be 6 months due to fragility of neonates with severe forms of DNA repair disorders and limitations of motor assessment scales in infants younger than 6 months. There will be no maximum age for enrollment eligibility.
- •No restrictions regarding gender, race, or ethnicity.
- •Voluntary written consent from the participant if adult capable of consenting or parent/guardian if minor or not capable of consenting
- •Written consent of Legally Authorized Representative if enrolling adult lacks capacity to consent
排除标准
- •Any prior history of systemic gene or cell-based therapy
- •Current participation in an interventional clinical trial
结局指标
主要结局
Longitudinal stability of cerebellar and gait function on neurological examination
时间窗: 3 years
The longitudinal stability of cerebellar and gait function will be assessed by the presence or absence of tremors (absence = 1, presence = 0), dysmetria (absence = 1, presence = 0), dysdiadochokinesia (absence = 1, presence = 0) and Gowers sign (absence = 1, presence = 0). The scores will be added to yield a total score ranging from 0 to 4, with 4 representing the best performance.
Longitudinal stability of motor function using gait speed measurement
时间窗: 3 years
Longitudinal stability of motor function in study participants as assessed by gait speed measured over a 10 meter distance
Longitudinal stability of motor function using 10 meter walk/run test
时间窗: 3 years
Longitudinal stability of motor function using Timed Up and Go (TUG) test
时间窗: 3 years
Longitudinal stability of motor function using the Dynamic Gait Index (DGI)
时间窗: 3 years
次要结局
未报告次要终点