Understanding long-term progression in myotonic dystrophy type 1 (DM1)

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational study aiming to characterize how DM1 progresses over the long term in at least 1,000 adults. Researchers will track functional abilities and organ-system measures to identify potential biomarkers of disease progression. The study will focus on changes in gait speed, hand and muscle strength, ECG patterns, and respiratory function. Enrollment includes adults aged 18–70 who have a clinical DM1 diagnosis or a positive genetic test and provide informed consent. No therapeutic intervention is described in this trial.

Why it matters

Who can join: the full rules

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 (\<30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for 3 days or more; and a genetic test suspicious of an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or first degree relative. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\>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.

Where it's running

• Virginia Commonwealth University
  Richmond, Virginia, United States Recruiting

Study contacts

• Principal investigator: Nicholas Johnson, MD — Virginia Commonwealth University
• Study coordinator: Jennifer Raymond
• Email: Jennifer.raymond@vcuhealth.org
• Phone: 804-828-6318

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Zeleciment Basivarsen (DYNE-101) for people with myotonic dystrophy type 1

  This trial will test whether Zeleciment Basivarsen (DYNE-101) improves symptoms and is safe and tolerable for adults with myotonic dystrophy type 1.

  Recruiting at 44 sites Phase 3 Dyne Therapeutics · La Jolla, California and 43 other locations · NCT07486934

• Spanish National Registry for Myotonic Dystrophy Type 1

  This registry gathers health, clinical, and genetic information from people in Spain with DM1 to see how the condition changes over time and help match patients to future trials.

  Recruiting at 8 sites Fundació Institut Germans Trias i Pujol · Multiple Locations, Andalusia and 7 other locations · NCT07385443

• Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy

  This study is creating a registry for people with myotonic dystrophy or facioscapulohumeral muscular dystrophy to share their health information and connect with researchers working to learn more about these conditions.

  Recruiting University of Rochester · Rochester, New York · NCT00082108

• Remote monitoring and genetic analysis for myotonic dystrophy type 1

  This project will test if at-home remote tests plus a blood genetic sample can help explain why symptoms differ among adults with myotonic dystrophy type 1.

  Recruiting University of Rochester · Rochester, New York · NCT07505342

• Identifying biomarkers and clinical endpoints in Myotonic Dystrophy Type 1

  This study is trying to learn more about Myotonic Dystrophy Type 1 by looking at how the disease affects around 700 adults over two years, including their muscle health and daily activities.

  Recruiting at 15 sites Virginia Commonwealth University · La Jolla, California and 16 other locations · NCT03981575

• Online registry for myotonic dystrophy patients

  This study is creating an online registry for people with myotonic dystrophy to share their experiences and help researchers find better treatments.

  Recruiting Myotonic Dystrophy Foundation · Oakland, California · NCT02398786

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.