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Remote Assessments and Genetic Determinants of Myotonic Dystrophy

NCT07505342 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2026-04-01

No results posted yet for this study

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

Conditions

  • Myotonic Dystrophy Type 1 (DM1)
  • DM1

Sponsors & Collaborators

  • Muscular Dystrophy Association

    collaborator OTHER

  • Myotonic Dystrophy Foundation (MDF)

    collaborator UNKNOWN

  • National Institutes of Health (NIH)

    collaborator NIH

  • University of Rochester

    lead OTHER

Principal Investigators

  • Johanna Hamel, MD · University of Rochester

Eligibility

Min Age
18 Years
Max Age
88 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-05-10
Primary Completion
2030-01-01
Completion
2030-01-01

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07505342 on ClinicalTrials.gov