Remote Assessments and Genetic Determinants of Myotonic Dystrophy

NCT07505342 | Recruiting

• 1 other identifier: STUDY00006466
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (5)

• Remote assessment of grip strength

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

  12 months

• Remote assessment of cognitive function

  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).

  12 months

• Remote assessment of activity

  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

  12 months

• Genetic test

  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.

  at baseline

• Timed Up and Go

  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

  12 months

Eligibility Criteria

• Age: 18 Years - 88 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Myotonic dystrophy DM1 between the ages of 18-88 years old

You may qualify if:

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

Sponsors & Collaborators

• University of Rochester: lead
• Muscular Dystrophy Association: collaborator
• Myotonic Dystrophy Foundation (MDF): collaborator
• National Institutes of Health (NIH): collaborator

Study Sites (1)

University of Rochester

Rochester, New York, 14642, United States

RECRUITING

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Johanna Hamel, MD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jeanne Dekdebrun

CONTACT

585-275-0420; REACHDM@URMC.rochester.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Neurology, Pathology and Laboratory Medicine

Study Record Dates

• First Submitted: March 17, 2026
• First Posted: April 1, 2026
• Study Start: May 10, 2022
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: April 1, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)