Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy

Mass General Brigham

Status: Enrolling

Conditions: Duchenne Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT05016908

2019P001504

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.

Enrollment: 100 estimated patients

Sex: All

Ages: 5+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subjects with DMD or BMD based on genetic testing. Control subjects are unknown to have 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 biofluid collection: Males age 5 years and older with DMD or BMD; males and females ages 18 years and older without muscular dystrophy.

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.
• Use of anti-platelet drugs within 7 days prior to blood draw; use of anticoagulants within 60 days prior to blood draw.
• Inability or unwillingness of the subject to give written informed consent.

Trial design

100 participants in 1 patient group

Biofluid collection

Description:

Eligible volunteers will be asked to provide a single urine sample and undergo a single blood draw.