Developing new biomarkers for muscular dystrophies

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 identify less invasive methods for measuring the activity and severity of muscular dystrophies, such as Myotonic Dystrophy and Duchenne Muscular Dystrophy. Researchers will analyze urine and blood samples, as well as perform painless tests like ultrasound and electrical impedance myography on participants. The goal is to reduce reliance on muscle biopsies while improving the evaluation, diagnosis, and treatment of these conditions. By gathering this information, the study seeks to enhance the understanding of human muscle diseases.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.
* Able to provide informed consent or assent for participation in the study.
* Demographic characteristics for single biofluid collection: Males and females age 5 years and older.
* Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.
* Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.

Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.

Exclusion Criteria:

* Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
* Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.
* Other. Inability or unwillingness of the subject to give written informed consent.

Where it's running

• Brigham and Women's Hospital
  Boston, Massachusetts, United States Recruiting
• Massachusetts General Hospital
  Boston, Massachusetts, United States Recruiting
• Wake Forest University
  Winston-Salem, North Carolina, United States Recruiting
• University of Pittsburgh
  Pittsburgh, Pennsylvania, United States Recruiting
• Boston Children's Hospital
  Boston, Massachusetts, United States Active not recruiting

Study contacts

• Principal investigator: Thurman M. Wheeler, MD — Massachusetts General Hospital
• Study coordinator: Tamkin Shahraki, MD
• Email: tshahraki@mgh.harvard.edu
• Phone: 617-726-7506

Similar studies

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

• An online registry for Duchenne and Becker muscular dystrophy patients

  This study is creating an online registry to help people with Duchenne and Becker muscular dystrophy connect with clinical trials and find helpful information about their condition.

  Recruiting The Duchenne Registry · Washington D.C., District of Columbia · NCT02069756

• Using MRI and biomarkers to monitor muscular dystrophy progression

  This study is testing if MRI and other tests can help track how Duchenne and Becker muscular dystrophies change over time in boys and men, and see how these changes relate to their daily activities and treatments.

  Recruiting at 2 sites University of Florida · Gainesville, Florida and 2 other locations · NCT01484678

• 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

• VM100: a nutritional supplement to see if it improves quality of life for boys with Duchenne

  This Phase 2 study tests VM100, a nutritional drink, in boys aged 8 and up with Duchenne muscular dystrophy to see if it can improve quality of life and reduce fatigue.

  Recruiting Phase 2 University of Florida · Gainesville, Florida · NCT07766980

• KER-065 for Duchenne Muscular Dystrophy: safety and potential benefit in boys and men

  This study tests whether KER-065 is safe and can help with symptoms in males with Duchenne muscular dystrophy, including both ambulatory and nonambulatory participants who are on standard care.

  Recruiting at 2 sites Phase 2 Keros Therapeutics, Inc. · Tbilisi and 3 other locations · NCT07704099

• 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

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.