What is this study trying to find out about Myotonic Dystrophy Type 1?

This study aims to better understand the progression and biological markers of Myotonic Dystrophy Type 1, which varies widely among patients. Researchers want to improve how the disease is measured and managed by studying many patients over time. The research is led by Virginia Commonwealth University and funded by the FDA's orphan products office.

Who may be eligible for this Myotonic Dystrophy Type 1 clinical trial?

Adults aged 18 to 70 with a clinical or genetic diagnosis of DM1 may be eligible. Both men and women can participate, but those with serious kidney or liver disease, uncontrolled diabetes or thyroid issues, active cancer (except skin cancer), current pregnancy, or recent participation in other DM1 trials are excluded. Please review eligibility criteria for more details.

Is there any cost to participate in this Myotonic Dystrophy Type 1 clinical trial?

Study-related care, including all visits and tests, is provided at no cost. However, personal travel and other expenses may vary and are not guaranteed to be covered. Participants can expect support for study visits but should plan for their own travel costs.

Actively Recruiting

Age: 18Years - 70Years

All Genders

ID03981575

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Led by Virginia Commonwealth University · Updated on 2025-06-06

700

Participants Needed

Research Sites

8 weeks

Total Duration

AI-Summary

What this Trial Is About

Researchers are studying Myotonic Dystrophy Type 1 (DM1), a condition with variable symptoms and limited biological understanding. The study aims to improve knowledge about the disease's natural history, find reliable biomarkers, and better characterize patient differences. This observational study builds on earlier work by the Myotonic Dystrophy Clinical Research Network and is funded by the FDA's Office of Orphan Products Development. About 700 adults aged 18 to 70 with DM1 will participate across 15 centers. No experimental treatments are given; participants receive their usual care. Study visits happen at the start, 12 months, and 24 months. Several sub-studies include muscle biopsies for some participants, a COVID-19 survey and blood tests, physical activity monitoring with wearable devices, and extra muscle strength tests using handheld devices. Participants will complete physical tests like walking and respiratory function assessments, questionnaires, and activity monitoring. Muscle biopsy results will be analyzed for specific biomarkers. Researchers will track changes in walking speed and lung function over 24 months. Safety and health data are collected continuously. The study lasts two years, with additional visits for sub-studies when applicable.

CONDITIONS

Brief Title

Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Who Can Participate

Age: 18Years - 70Years

All Genders

Eligibility Criteria

You may qualify if you...

Age 18 to 70 years inclusive
Able to provide informed consent
Clinical diagnosis of Myotonic Dystrophy 1 based on research criteria or positive genetic test
For muscle biopsy sub-study: moderate weakness of ankle dorsiflexion in at least half of participants

You will not qualify if you...

Symptomatic kidney or liver disease, uncontrolled diabetes or thyroid disorder, or active cancer other than skin cancer
Current alcohol or substance abuse
Participation in other DM1 clinical trials currently or within 6 months
Pregnant or planning pregnancy during the study
Medical conditions that could affect study performance as judged by investigators
Use of anticoagulants or bleeding disorders for muscle biopsy sub-study
Previous muscle biopsy of the same muscle targeted for biopsy sub-study
Advanced muscle wasting precluding biopsy in sub-study
Non-ambulatory participants limited to less than 15% of enrollment
Use of aspirin or non-steroidal anti-inflammatory drugs discontinued 3 days before biopsy if possible
Platelet count below 50,000 for biopsy participants
Known CTG repeat size less than 100 repeats without clear signs of weakness and wasting for biopsy sub-study
Concurrent medical conditions affecting study measures as per investigator judgment
Note: Non-ambulatory participants are allowed but limited to less than 15% of total enrollment

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Monitoring

Duration - 24 months

Participants are observed without receiving any experimental treatment while continuing their standard of care. Study visits occur to assess disease progression and collect data.

Visits at baseline (0 months), 12 months, and 24 months

Muscle Biopsy Sub-study

Duration - 3 months

A subset of participants undergo an additional muscle biopsy to study splicing biomarkers.

1 additional visit at 3 months

Longitudinal Muscle Biopsy Sub-study

Duration - Ad hoc timing beyond 24 months

Participants with a prior muscle biopsy may have another biopsy visit more than 24 months after the previous one.

Additional biopsy visit scheduled as needed

Trial Site Locations

Total: 17 locations

University of California, San Diego

La Jolla, California, United States, 92703

Actively Recruiting

University of California, Los Angeles

Los Angeles, California, United States, 90095

Actively Recruiting

University of Colorado - Denver

Denver, Colorado, United States, 80204

Actively Recruiting

University of Florida

Gainesville, Florida, United States, 32611

Actively Recruiting

University of Iowa

Iowa City, Iowa, United States, 52242

Actively Recruiting

Kansas University Medical Center

Kansas City, Kansas, United States, 66160

Actively Recruiting

University of Rochester

Rochester, New York, United States, 14642

Actively Recruiting

Ohio State University

Columbus, Ohio, United States, 43210

Actively Recruiting

Houston Methodist Neurological Institute

Houston, Texas, United States, 77030

Actively Recruiting

Virginia Commonwealth University

Richmond, Virginia, United States, 23298

Actively Recruiting

Université de Sherbrooke

Québec, Canada

Active, Not Recruiting

Friedrich Baur Institute, Ludwig-Maximilians-Universität München

München, Germany

Actively Recruiting

Centro Clinico NeMO

Milan, Italy

Completed

Radboud University Medical Center

Nijmegen, Netherlands

Actively Recruiting

University of Auckland

Auckland, New Zealand

Actively Recruiting

St. George's, University of London

London, United Kingdom

Actively Recruiting

University College London

London, United Kingdom

Actively Recruiting

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Research Team

Jennifer Raymond

Ruby Langeslay

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

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Published Research Related To This Trial

Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1.

Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel...

https://pubmed.ncbi.nlm.nih.gov/41747205