Actively Recruiting

Age: 18Years - 88Years
All Genders
ID07505342

REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy

Led by University of Rochester · Updated on 2026-04-01

1000

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

Sponsors

U

University of Rochester

Lead Sponsor

M

Muscular Dystrophy Association

Collaborating Sponsor

AI-Summary

What this Trial Is About

This observational study focuses on people with myotonic dystrophy type 1 (DM1), a disease that varies widely in how it affects individuals. Researchers aim to better understand the reasons behind these differences by studying how DM1 impacts skeletal and smooth muscles, the heart, and the nervous system. They also plan to analyze genetic differences through blood samples to help identify effective ways to measure symptoms. Participants will take part from their own homes without needing to travel to a study site. They will receive a toolkit by mail, including an iPad with video conferencing software for medical interviews and functional assessments conducted remotely. Blood samples will be collected either at a local lab or through a home draw device and sent for genetic testing. Participants can choose to receive their genetic test results if they wish. During the study, participants will be assessed remotely over 12 months for grip strength, cognitive function, activity levels, and mobility using the Timed Up and Go test. Genetic testing is done at the start of the study. The research team will monitor symptoms and function through video calls and collected data, allowing for ongoing evaluation without in-person visits. The study will continue until 2030, and participants can engage comfortably from home throughout this period.

CONDITIONS

Brief Title

Remote Assessments and Genetic Determinants of Myotonic Dystrophy

Who Can Participate

Age: 18Years - 88Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age between 18 and 88 years
  • Clinical diagnosis of myotonic dystrophy type 1 (DM1)
  • English speaking
  • Able to provide informed consent
  • Access to wifi at home
Not Eligible

You will not qualify if you...

History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Monitoring

Duration - 12 months

Participants are remotely assessed for grip strength, cognitive function, physical activity, and mobility over time.

Remote assessments conducted periodically over 12 months

Trial Site Locations

Total: 1 location

1

University of Rochester

Rochester, New York, United States, 14642

Actively Recruiting

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Research Team

J

Jeanne Dekdebrun

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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