Biomarker Development for Muscular Dystrophies

Duchenne Muscular Dystrophy Clinical Trial

Official title:

Biomarker Development for Muscular Dystrophies

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05019625
• Other study ID #: 2014P001727
• Status: Recruiting
• Start date: February 20, 2015
• Est. completion date: June 2027

Study information

• Verified date: October 2023
• Source: Massachusetts General Hospital
• Contact: Tamkin Shahraki, MD
• Phone: 617-726-7506
• Email: tshahraki[@]mgh.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 465
• Est. completion date: June 2027
• Est. primary completion date: June 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 5 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Becker Muscular Dystrophy
• Duchenne Muscular Dystrophy
• Facioscapulohumeral Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne
• Muscular Dystrophy, Facioscapulohumeral
• Myotonic Dystrophy

Locations

Country	Name	City	State
United States	Boston Children's Hospital	Boston	Massachusetts
United States	Brigham and Women's Hospital	Boston	Massachusetts
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	University of Pittsburgh	Pittsburgh	Pennsylvania
United States	Wake Forest University	Winston-Salem	North Carolina

Sponsors (5)

Lead Sponsor	Collaborator
Massachusetts General Hospital	Boston Children's Hospital, Brigham and Women's Hospital, University of Pittsburgh, Wake Forest University

Country where clinical trial is conducted

United States, 

References & Publications (2)

Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0. — View Citation

Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Extracellular RNA in biofluids	The extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity based on clinical measurements of muscle power, electrocardiogram parameters, pulmonary function test parameters, muscle tissue composition using quantitative ultrasound and electrical impedance myography, and muscle tissue specimens.	6 years