Extracellular RNA Biomarkers of Myotonic 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: Myotonic 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 splice variants in biofluids [Time frame: 4 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 3 centers
- Massachusetts General Hospital — Boston
- Beth Israel Deaconess Medical Center — Boston
- University of Texas Southwestern — Dallas
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: NCT05020002 · 2020P000018