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

  • STATUS
    Recruiting
  • End date
    Dec 14, 2032
  • participants needed
    1000
  • sponsor
    Virginia Commonwealth University
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Updated on 15 July 2026
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Summary

Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.

Description

The goal of this observational study is to characterize long-term disease progression over at least 4 years in at least 1,000 adults with myotonic dystrophy type 1 (DM1).

The main questions this study aims to answer are:

  1. How do clinical measures, such as walking speed, hand function, and muscle strength, change over a multi-year period in people with DM1?
  2. Can long-term changes in slowly progressive measures, like heart rhythms (ECG) and lung function (FVC), be accurately captured and used as biomarkers for the disease over time?

Details
Condition DM1, Myotonic Dystrophy, Myotonic Dystrophy 1, Myotonic Dystrophy Type 1, Myotonic Dystrophy Type-1, Myotonic Dystrophy, Type 1 (DM1), Myotonic Muscular Dystrophy
Age 18years - 70years
Clinical Study IdentifierNCT07700225
SponsorVirginia Commonwealth University
Last Modified on15 July 2026

Eligibility

 Yes No Not Sure

Inclusion Criteria

Age 18 to 70 years (inclusive)
Written, voluntary informed consent must be obtained prior to any study procedures. In cases where a Legally Authorized Representative (LAR) provides consent, verbal assent will be obtained from the subject, as determined by the investigator and documented directly on the consent form. Capacity to consent will be determined by the neurologist at the Baseline visit and will be signed off on the Inclusion/Exclusion checklist
Clinical diagnosis of DM1 based on research criteria or positive genetic test. The research criteria for clinical diagnosis of DM1 require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in > 99% of individuals who satisfied these criteria. OR A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (1,500)

Exclusion Criteria

Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than in situ skin cancer
Current alcohol or substance use disorder
Concurrent pregnancy or planned pregnancy during the course of the study
Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator. compromise performance on study measures
Use of mexiletine or other anti-myotonia agents within 72 hours of any study visit
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