Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies.
Layal Antoury, Ningyan Hu, Leonora Balaj...
https://pubmed.ncbi.nlm.nih.gov/30254196Actively Recruiting
Age: 5Years +
All Genders
Healthy Volunteers
ID05020002
Extracellular RNA Biomarkers of Myotonic Dystrophy
Led by Massachusetts General Hospital · Updated on 2025-11-24
215
Participants Needed
3
Research Sites
52 weeks
Total Duration
On this page
Sponsors
M
Massachusetts General Hospital
Lead Sponsor
B
Beth Israel Deaconess Medical Center
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are exploring less invasive ways to measure how muscular dystrophies, including Myotonic Dystrophy types 1 and 2, affect the body. Traditional methods require muscle biopsies, which are more invasive. This study aims to find out if analyzing urine and blood samples can show the activity and severity of these conditions. The study is observational and involves volunteers of various ages, including some who may not show symptoms but have genetic markers for the disease. Participants will be divided into groups based on the procedures they undergo. One group will provide a single urine sample and blood draw. Another group will provide urine and blood samples every six months for two years, along with muscle function tests, yearly lung function tests, and heart monitoring through electrocardiograms. A third group will provide urine samples and have one muscle biopsy. These steps help researchers compare less invasive tests to muscle biopsy results. Volunteers will be asked to provide samples and undergo tests at scheduled intervals over up to four years. Researchers will analyze extracellular RNA splice variants in urine and blood to track disease activity. Muscle function, lung capacity, and heart health will be assessed regularly. Participants must provide informed consent, and those who are pregnant or have certain medical conditions or medication use will be excluded. The study includes healthy volunteers as controls and aims to improve future diagnosis and monitoring of muscular dystrophies.
CONDITIONS
Brief Title
Extracellular RNA Biomarkers of Myotonic Dystrophy
Who Can Participate
Age: 5Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria
- Able to provide informed consent or assent for participation in the study
- Males and females aged 5 years and older for single biofluid collection (DM1, DM2, and non-DM)
- Males and females aged 14 years and older with DM1 for repeated measurements
- Males and females aged 18 to 65 years for biofluid and muscle biopsy
You will not qualify if you...
- Medical history of immunosuppression, coagulopathy, liver or kidney disease, HIV positive, or hepatitis B/C positive
- 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 interfering with wound care
- Women who are pregnant or intend to become pregnant prior to biopsy
- Positive urine pregnancy test
- Inability or unwillingness to provide written informed consent or assent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Single Biofluid Collection
Duration - 1 day
Participants provide a single urine sample and undergo a single blood draw to collect biofluid for analysis.
1 visit (in-person)
Serial Biofluid and Muscle Function Testing
Duration - 2 years
Participants provide urine and blood samples and undergo standard muscle function tests every six months over a two-year period, with pulmonary function tests and electrocardiogram once per year.
4 visits every 6 months and 2 annual visits for pulmonary and ECG tests
Biofluid and Muscle Tissue Biopsy
Duration - 1 day
Participants provide a urine sample and undergo a muscle biopsy procedure once.
1 visit (in-person)
Trial Site Locations
Total: 3 locations
1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02129
Actively Recruiting
2
Beth Israel Deaconess Medical Center
Boston, Massachusetts, United States, 02215
Actively Recruiting
3
University of Texas Southwestern
Dallas, Texas, United States, 75390
Actively Recruiting
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Research Team
T
Tamkin Shahraki, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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Published Research Related To This Trial
Urine mRNA to identify a novel pseudoexon causing dystrophinopathy.
Layal Antoury, Ningyan Hu, Basil Darras...
https://pubmed.ncbi.nlm.nih.gov/31211175