REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Remote assessment of grip strength
研究概览
简要总结
The goal of this observational study, conducted in participants' homes and requiring no travel to a study site, is to better understand disease variability in people with myotonic dystrophy type 1 (DM1) and to identify effective ways to measure symptoms.
Myotonic dystrophy is one of the most variable diseases. Some people develop symptoms when they are young, others when they are much older. In the same family, some people may have mild problems, while others are strongly affected. The goal of this study is to find out more about what is causing these differences. To accomplish this, investigators will study the effects of DM1 on skeletal and smooth muscles, the heart, and the nervous system. Then, investigators will evaluate genetic differences with a blood sample.
- Participants will receive a toolkit in the mail which includes all necessary equipment to participate in the study, including an iPad with video conferencing software.
- Then the study team will connect with participants via videoconferencing for medical interview about DM1 symptoms and functional assessments
- Participants will have their blood drawn in a lab in their community or using a home draw device, and ship it to us for research genetic analysis
- Participants can chose to have their research genetic test result returned to them
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
- 18 Years 至 88 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 18-88 years
- •Clinical diagnosis of DM1
- •English speaking
- •Able to provide informed consent
- •Available wifi
排除标准
- 未提供
结局指标
主要结局
Remote assessment of grip strength
时间窗: 12 months
Grip strength will be assessed using a hand held dynamometer (strength measured in kg)
Remote assessment of cognitive function
时间窗: 12 months
Participants will complete a memory tests on the study iPad lasting less than 10 minutes. Scoring will look at the number of correct answers as well as time to complete (in seconds).
Remote assessment of activity
时间窗: 12 months
Participants will wear an activity monitor for 7 days. One device is worn on the wrist like a watch and the other on the waistband of participants pants
Genetic test
时间窗: at baseline
Participants will have their blood drawn in a lab in their community and ship it to us using a pre-paid shipping label. If not able, a home blood draw kit will be provided. DNA will be extracted from the blood and the CTG repeat length will be determined. If a participant chooses to, they will receive a letter with their research genetic test result.
Timed Up and Go
时间窗: 12 months
Participant will sit in a chair, stand up, walk a designated distance, turn around and return to the chair to sit down. The amount of time it takes to complete this will be documented in seconds
次要结局
未报告次要终点
研究者
Johanna Hamel
Associate Professor of Neurology, Pathology and Laboratory Medicine
University of Rochester