Identifying biomarkers and clinical endpoints in Myotonic Dystrophy Type 1

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 observational study aims to enhance the understanding of Myotonic Dystrophy Type 1 (DM1) by addressing gaps in data regarding its natural history and biomarkers. Approximately 700 adult participants will be enrolled across 15 centers, where they will undergo standard care and participate in assessments at baseline, 12 months, and 24 months. The study includes sub-studies focusing on muscle biopsies, COVID-19 responses, and daily physical activity to capture the full spectrum of disease severity and patient experiences. The goal is to refine sample collection and analysis procedures to better manage patient heterogeneity in DM1.

Why it matters

Who can join: the full rules

Inclusion criteria:

* Age 18 to 70 (inclusive)
* Competent to provide informed consent
* Clinical diagnosis of DM1 based on research criteria1 or positive genetic test
* Comment: The clinical research criteria 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.2

Exclusion criteria:

* Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than skin cancer.
* Current alcohol or substance abuse
* Concurrent enrollment in clinical trial for DM1, or participation in trial within 6 months of entry.
* 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.
* Note: non-ambulatory participants are not excluded, but are limited to \<15% of enrollment.

Inclusion criteria for participants in the muscle biopsy sub-study:

• Of the 95 patients undergoing the tibialis anterior muscle biopsy, at least half will have at least moderate weakness of ankle dorsiflexion, defined as MRC score ≤ 4+. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. Approximately 10 patients at each site will undergo the muscle biopsy.

Exclusion criteria for 95 participants in the muscle biopsy sub-study:

* Known CTG repeat expansion size less than 100 repeats, unless there are clear cut signs of limb weakness and muscle wasting. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy.
* Use of anticoagulant such as warfarin or a direct oral anticoagulant (e.g. dabigatran) due to the increased risk of bleeding.
* Use of aspirin or non-steroidal anti-inflammatory agents should be discontinued 3 days prior to the biopsy procedure, if possible.
* Platelet count \<50,000 (if known) due to the increased risk of bleeding.
* History of a bleeding disorder due to the increased risk of bleeding.
* Advanced wasting of tibialis anterior (TA) muscle that precludes needle muscle biopsy in order to ensure that a sample taken would be of muscle and not just fat and fascia.
* Previous muscle biopsy of either TA in order to provide muscle tissue samples of non-biopsied muscles.

Where it's running

• University of California, San Diego
  La Jolla, California, United States Recruiting
• University of California, Los Angeles
  Los Angeles, California, United States Recruiting
• University of Colorado - Denver
  Denver, Colorado, United States Recruiting
• University of Florida
  Gainesville, Florida, United States Recruiting
• University of Iowa
  Iowa City, Iowa, United States Recruiting
• Kansas University Medical Center
  Kansas City, Kansas, 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.

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

  This study will follow adults with DM1 for at least four years to see how walking, hand function, muscle strength, heart rhythms, and lung function change over time.

  Recruiting Virginia Commonwealth University · Richmond, Virginia · NCT07700225

• 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

• 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

• 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

• Long-term PGN-EDODM1 extension for people with myotonic dystrophy type 1

  This open-label extension will try continued PGN-EDODM1 in people with myotonic dystrophy type 1 who completed a prior PGN-EDODM1 study to see how safe and tolerable it is over time.

  Recruiting at 3 sites Phase 2 PepGen Inc · Calgary, Alberta and 2 other locations · NCT07220603

• Wearable monitoring of walking and arm movement in adults with neuromuscular or metabolic movement disorders

  This project uses a wrist/ankle wearable to continuously monitor walking and upper-limb movement in ambulant adults with neuromuscular diseases or obesity to see if digital measures like stride speed track real-life motor function.

  Recruiting Centre Hospitalier Universitaire de Liege · Liège · NCT07136844

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.