Batten 病的临床和神经心理学研究
This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
研究概览
地位
详细说明
Batten Disease is an inherited disorder that causes progressive cognitive and behavioral decline in children. There have been no systematic clinical studies of Batten Disease using standardized rating instruments with known inter-rater reliability and validity.
The Batten Study Group developed the Unified Batten Disease Rating Scale (UBDRS), a clinical rating instrument used to assess the motor, behavioral, and functional capabilities of individuals with Batten disease. Using the UBDRS, study investigators will evaluate participants approximately every year to track disease progression. The UBDRS is the primary natural history tool, but the study also includes neuropsychological assessment, adaptive function, quality of life measures, and other measures to assess the impact of Batten Disease. Participants will be examined at the University of Rochester Batten Center, Batten Disease Support and Research Association annual meeting, or remotely via televideo. Information related to racial and ethnic background, medical history, symptoms, medications, and diagnostic testing will be collected.
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名：Amy Vierhile, RN PNP
- 电话号码：(585)275-4762
- 邮箱：amy_vierhile@urmc.rochester.edu
学习地点
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New York
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Rochester、New York、美国、14642
- 招聘中
- University of Rochester
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接触：
- Amy Vierhile, RN PNP
- 电话号码：(585) 275-4762
- 邮箱：amy_vierhile@urmc.rochester.edu
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参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
取样方法
研究人群
Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
描述
Inclusion Criteria:
- child or adult with any form of Batten disease
- parent or legal guardian of a child or adult with any form of Batten disease
Exclusion Criteria:
- parent or guardian unable or unwilling to provide permission for the affected individual
学习计划
研究是如何设计的？
设计细节
- 观测模型：COHORT
- 时间观点：PROSPECTIVE
队列和干预
团体/队列 |
|---|
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Batten disease
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis) |
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease.
大体时间：Annual Assessments for up to 20 years
|
A quantitative measure of natural history |
Annual Assessments for up to 20 years
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Cognitive and neurobehavioral functioning of individuals with Batten disease
大体时间：Annual Assessments for up to 10 years
|
A standardized battery of neuropsychological tests and neurobehavioral assessments will be used to measure cognitive skills (e.g., verbal reasoning, attention, memory, language), mood, behavior, adaptive function, and quality of life. |
Annual Assessments for up to 10 years
|
|
Quantitative assessment of vision and retinal thickness
大体时间：Annual Assessments for up to 20 years
|
Vision and retinal thickness assessments include visual acuity, visual fields, fundus photography to document anatomic extent of disease, fundus autofluorescence to measure lipofuscin accumulation, and optical coherence tomography (OCT) to provide detailed images of retinal structure, measure retinal layers, and measure central macular thickness. |
Annual Assessments for up to 20 years
|
合作者和调查者
调查人员
- 首席研究员：Jonathan W Mink, MD PhD、University of Rochester
研究记录日期
研究主要日期
学习开始
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
关键字
其他相关的 MeSH 术语
其他研究编号
- Batten Study
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