Biomarker Development for Muscular Dystrophies

NCT05019625 | Recruiting

• 1 other identifier: 2014P001727
• Study Type: observational
• Target: 465
• Locations: 1 country
• Sites: 5

Brief 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.

Conditions

Myotonic Dystrophy; Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Facioscapulohumeral Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (4)

Single biofluid collection

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

Serial biofluid and muscle function testing

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

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

Ultrasound and myography testing

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

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Males and females ages 5 years and older with myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and facioscapulohumeral muscular dystrophy (FSHD) confirmed by genetic testing or by clinical history and examination are invited to participate. In addition, male and female healthy volunteers ages 18 and older also are invited to participate.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Boston Children's Hospital: collaborator
• Wake Forest University: collaborator
• University of Pittsburgh: collaborator
• Brigham and Women's Hospital: collaborator

Study Sites (5)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

ACTIVE NOT RECRUITING

Brigham and Women's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02129, United States

RECRUITING

Wake Forest University

Winston-Salem, North Carolina, 27157, United States

RECRUITING

University of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

RECRUITING

Related 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.

  PMID: 30254196 BACKGROUND

• 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.

  PMID: 31211175 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

biofluid; muscle tissue

MeSH Terms

Conditions

Myotonic Dystrophy; Muscular Dystrophy, Duchenne; Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked

Study Officials

• Thurman M. Wheeler, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Tamkin Shahraki, MD

CONTACT

617-726-7506; tshahraki@mgh.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Physician Scientist

Study Record Dates

• First Submitted: August 16, 2021
• First Posted: August 25, 2021
• Study Start: February 20, 2015
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2028
• Last Updated: November 24, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (5)