Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 51
- 试验地点
- 1
- 主要终点
- Spastic Paraplegia Rating Scale (SPRS)
研究概览
简要总结
Background:
Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time. They want to look for changes in the blood and cells of people with the most common forms of HSP that might allow them to better understand the disease.
Objectives:
To learn more about common forms of hereditary spastic paraplegia and find out how it progresses over time.
Eligibility:
People age 7 and older with SPG3A, SPG4A, or SPG31
Design:
Participants will have 1 two-hour visit each year for up to 5 years.
At 1 visit, adult participants may have a skin biopsy. An area of skin will be numbed then a tool will remove a small piece of skin.
At all visits, all participants will have a physical exam and blood drawn.
At all visits, participants will do a few tasks like walking quickly and climbing stairs.
Participants can give permission for their skin cells, DNA samples, and data to be used in other studies. The samples and data will have no identifying information.
详细描述
The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate patients with hereditary spastic paraplegia types 3A, 4 and 31. The objective of this study is to understand disease progression in these closely related forms of hereditary spastic paraplegia using validated rating scales such as the Spastic Paraplegia Rating Scale (SPRS), and Medical Outcomes Study Questionnaire Short Form 36 Health Survey (SF-36). We also hope to develop biomarkers that could be used in future treatment trials from human serum and by utilizing transcranial magnetic stimulation (TMS) to determine central motor conduction times and resting motor thresholds.
OBJECTIVES
The primary objective of this protocol is to study the natural history of the most common forms of autosomal dominant hereditary spastic paraplegia. The information obtained from validated rating scales (SPRS and SF-36), TMS, and serum biomarkers, will allow for the development of treatment trials. In some cases, blood or other biologic samples (including skin biopsies) will be obtained for future laboratory studies.
STUDY POPULATION
The number of participants to be enrolled will be set to 300.
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
- 7 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Spastic Paraplegia Rating Scale (SPRS)
时间窗: Once a year for five years
Disease progression as measured by the SPRS and SF-36 scales.
SF-36
时间窗: Once a year for five years
Disease progression as measured by the SPRS and SF-36 scales.
次要结局
- Cortical silent period(Once a year for five years)
- miRNA relative quantity.(Once a year for five years)
- CMCT, resting motor thresholds, MEP amplitude and MEP latency(Once a year for five years)
- Fasting Triglycerides, total Cholesterol, HDL and LDL, Leptin, Insulin levels.(Once a year for five years)