DM1, Myotonic Dystrophy Type 1 (DM1)
Conditions
Brief summary
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
Interventions
None listed
Sponsors
University of Rochester
Muscular Dystrophy Association
Myotonic Dystrophy Foundation (MDF)
National Institutes of Health (NIH)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 88 Years
Healthy volunteers
No
Inclusion criteria
* Age 18-88 years * Clinical diagnosis of DM1 * English speaking * Able to provide informed consent * Available wifi
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Remote assessment of grip strength | 12 months | Grip strength will be assessed using a hand held dynamometer (strength measured in kg) |
| Remote assessment of cognitive function | 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 | 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 | 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 | 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 |
Countries
United States
Contacts
CONTACTJeanne Dekdebrun
PRINCIPAL_INVESTIGATORJohanna Hamel, MD
University of Rochester
Outcome results
None listed