Remote Assessments and Genetic Determinants of Myotonic Dystrophy

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-88
SponsorUniversity of Rochester

About this trial

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

Eligibility criteria

Qualifiers

Age 18-88 years

Clinical diagnosis of DM1

English speaking

Able to provide informed consent

Disqualifiers

None

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

No trial groups listed

Sponsors and collaborators

University of Rochester

Lead sponsor

Muscular Dystrophy Association

Collaborator

Myotonic Dystrophy Foundation (MDF)

Collaborator

National Institutes of Health (NIH)

Collaborator