Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy

NCT05016908 | Recruiting

• 1 other identifier: 2019P001504
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 2

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.

Conditions

Duchenne 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.

  4 years

Study Arms (1)

Biofluid collection

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

Eligibility Criteria

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

Study Population

Males ages 5 years and older with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). In addition, male and female family members without known muscular dystrophy ages 18 and older also are invited to participate.

You may qualify if:

• 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.

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.
• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Boston Children's Hospital: collaborator

Study Sites (2)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

ACTIVE NOT RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02129, 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

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

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

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 23, 2021
• Study Start: November 30, 2019
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2027
• Last Updated: November 24, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)