Natural History Study of Batten Disease
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
研究概览
简要总结
This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subject has or had a diagnosis of CLN6 or CLN3 Batten disease that has been confirmed by genotyping (documented presence of a variant on both gene alleles). Confirmation of genotyping will be performed prior to enrollment.
- •Subject (or legally authorized representative) has provided written informed consent (or assent) and authorization for use and disclosure of personal health information or research related health information
- •Subjects may enroll starting from birth
排除标准
- •Subject has or had experienced another illness that is known to cause cognitive decline (eg, trauma, meningitis, hemorrhage)
- •Subject received or receives an investigational gene therapy
结局指标
主要结局
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).
时间窗: 10 years
The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.
Assess the change over time in rating as determined using the Hamburg Scale.
时间窗: 10 years
The Hamburg scale is an established tool to capture the rate of decline or regression.
Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).
时间窗: 10 years
Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).
时间窗: 10 years
Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).
时间窗: 10 years
Characterize the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms
时间窗: 10 years
次要结局
未报告次要终点
研究者
Emily de los Reyes
Sponsor-Investigator
Nationwide Children's Hospital