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NCT Number: NCT07505342

Remote Assessments and Genetic Determinants of Myotonic Dystrophy

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

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Key information

Conditions

Myotonic Dystrophy Type 1 (DM1) Congenital, Hereditary, and Neonatal Diseases and Abnormalities DM1 Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Age range

18 year–88 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Rochester

Rochester, New York, 14642, United States

Location status: Recruiting

Location contact

Jeanne Dekdebrun

CONTACT

[email protected]

585-275-0420

Johanna Hamel, MD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age 18-88 years
  • Clinical diagnosis of DM1
  • English speaking
  • Able to provide informed consent
  • Available wifi

Treatment and study plan

Primary outcomes

  1. Remote assessment of grip strength

    Time frame: 12 months

    Grip strength will be assessed using a hand held dynamometer (strength measured in kg)

  2. Remote assessment of cognitive function

    Time frame: 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).

  3. Remote assessment of activity

    Time frame: 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

  4. Genetic test

    Time frame: 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.

  5. Timed Up and Go

    Time frame: 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

Study contacts

Contact information is provided by the study sponsor or research team.

Jeanne Dekdebrun

CONTACT

[email protected]

585-275-0420

Sponsors and collaborators

Lead sponsor

University of Rochester

Other

Collaborators

  • Muscular Dystrophy Association
  • Myotonic Dystrophy Foundation (MDF)
  • National Institutes of Health (NIH)

Registry information

Official study title

REACH DM - Remote Assessments and Genetic Determinants of Myotonic Dystrophy

Acronym: REACH-DM

Important dates

Study start
2022
Primary completion
2030
Study completion
2030
First posted
Apr 1, 2026
Registry last updated
Apr 1, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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