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
ID05019625
Biomarker Development for Muscular Dystrophies
Led by Massachusetts General Hospital · Updated on 2025-11-24
465
Participants Needed
5
Research Sites
52 weeks
Total Duration
On this page
Sponsors
M
Massachusetts General Hospital
Lead Sponsor
B
Boston Children's Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying muscular dystrophies, including Myotonic Dystrophy, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Facioscapulohumeral Muscular Dystrophy. The goal is to find less invasive ways to measure disease activity and severity compared to muscle biopsies, which are more invasive. This study focuses on evaluating whether urine and blood samples, along with painless tests like ultrasound and electrical impedance myography on arm and leg muscles, can help detect and assess these muscle diseases.
CONDITIONS
Brief Title
Biomarker Development for Muscular Dystrophies
Who Can Participate
Age: 5Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Subjects with Myotonic Dystrophy type 1 or 2 based on genetic testing or clinical criteria
- Able to give informed consent or assent for participation
- Males and females aged 5 years and older for single biofluid collection
- Males and females aged 14 years and older with DM1 for serial biofluid and muscle function testing
- Males and females aged 18 to 65 years for biofluid and muscle biopsy
- Males and females aged 14 years and older for single biofluid collection, ultrasound, and myography testing
You will not qualify if you...
- History of immunosuppression, coagulopathy, liver or kidney disease
- Documented HIV positive or hepatitis B and/or 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 post-procedure wound care
- Inability or unwillingness to provide written informed consent
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.
1 visit (in-person)
Serial Biofluid and Muscle Function Testing
Duration - 2 years
Participants provide urine and blood samples and undergo muscle function tests once every six months over two years, plus pulmonary function tests and electrocardiogram once per year.
Five visits every six months with additional annual pulmonary and ECG assessments
Biofluid and Muscle Tissue Biopsy
Duration - 1 day
Participants provide a urine sample and undergo a muscle biopsy once.
1 visit (in-person)
Ultrasound and Myography Testing
Duration - 1 day
Participants provide a single urine sample, a blood draw, and undergo ultrasound and electrical impedance myography studies once.
1 visit (in-person)
Trial Site Locations
Total: 5 locations
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Active, Not Recruiting
2
Brigham and Women's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
3
Massachusetts General Hospital
Boston, Massachusetts, United States, 02129
Actively Recruiting
4
Wake Forest University
Winston-Salem, North Carolina, United States, 27157
Actively Recruiting
5
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
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
4
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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