Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Duchenne Muscular Dystrophy. Basic parameters: from 5 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Extracellular RNA in biofluids [Time frame: 4 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
United States · 2 centers
- Boston Children's Hospital — Boston
- Massachusetts General Hospital — Boston
Publications
- 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
- 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
Identifiers
NCT: NCT05016908 · 2019P001504