Remote Assessments and Genetic Determinants of Myotonic Dystrophy

Part of paid clinical trials in Rochester, New York.

Sponsor
University of Rochester
Study ID
NCT07505342
Status
Recruiting
Apply to this trial

Conditions

  • DM1
  • Myotonic Dystrophy Type 1 (DM1)

Eligibility Criteria

Sex
ALL
Age
18 Years - 88 Years
Healthy Volunteers
Not accepted

Study Details

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

Key Dates

Start date
May 10, 2022
Status verified
Mar 2026
Primary completion
Jan 1, 2030
Completion
Jan 1, 2030

Study Design

Enrollment
1,000 participants (estimated)

Primary Outcome Measure

Remote assessment of grip strength [ Time Frame: 12 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of RochesterRochesterNew York14642
Jeanne Dekdebrun
[email protected]
585-275-0420
Johanna Hamel, MD (PRINCIPAL_INVESTIGATOR)

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