Biomarker Development for Muscular Dystrophies

Mass General Brigham

Status: Enrolling

Conditions: Facioscapulohumeral Muscular Dystrophy; Becker Muscular Dystrophy; Duchenne Muscular Dystrophy; Myotonic Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT05019625

2014P001727

Details and patient eligibility

About

Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Enrollment: 465 estimated patients

Sex: All

Ages: 5+ years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

465 participants in 4 patient groups

Single biofluid collection

Description:

We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw.

Serial biofluid and muscle function testing

Description:

We will ask eligible volunteers to provide a urine sample, a blood sample, and undergo standard muscle function tests once every six months over a two-year period, and undergo pulmonary function tests and electrocardiogram once per year for two years.

Biofluid and muscle tissue biopsy

Description:

We will ask eligible volunteers to provide a urine sample and undergo a muscle biopsy once.

Ultrasound and myography testing

Description:

We will ask eligible volunteers to provide a single urine sample, a single blood draw, and undergo ultrasound and electrical impedance myography studies once.