Extracellular RNA Biomarkers of Myotonic Dystrophy

Mass General Brigham

Status: Enrolling

Conditions: Myotonic Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT05020002

2020P000018

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: 215 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 (DM1, DM2, and non-DM).
• Demographic characteristics for repeated measurements: Males and females age 14 years and older with DM1.
• Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.

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. Women that are pregnant, or intend to become pregnant, prior to the biopsy; urine pregnancy test that is positive; inability or unwillingness of the subject to give written informed consent.
• Other. Inability or unwillingness of the subject to give written informed consent or assent.

Trial design

215 participants in 3 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.