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| Name | Class |
|---|---|
| Muscular Dystrophy Association | OTHER |
| Myotonic Dystrophy Foundation (MDF) | UNKNOWN |
| National Institutes of Health (NIH) | NIH |
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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Remote assessment of grip strength | Grip strength will be assessed using a hand held dynamometer (strength measured in kg) | 12 months |
| Remote assessment of cognitive function | 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). | 12 months |
| Remote assessment of activity | 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 | 12 months |
| Genetic test | 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. | at baseline |
| Timed Up and Go | 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 | 12 months |
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Inclusion Criteria:
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Myotonic dystrophy DM1 between the ages of 18-88 years old
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jeanne Dekdebrun | Contact | 585-275-0420 | REACHDM@URMC.rochester.edu |
| Name | Affiliation | Role |
|---|---|---|
| Johanna Hamel, MD | University of Rochester | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Rochester | Recruiting | Rochester | New York | 14642 | United States |
Aggregated and deidentified data will be shared with qualified investigators.
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| ID | Term |
|---|---|
| D009223 | Myotonic Dystrophy |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
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| D020967 | Myotonic Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |