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/30254196/Actively Recruiting
Led by Massachusetts General Hospital · Updated on 2025-11-24
465
Participants Needed
5
Research Sites
52 weeks
Total Duration
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
Biomarker Development for Muscular Dystrophies
T
Tamkin Shahraki, MD
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Massachusetts General Hospital
Lead Sponsor
Boston Children's Hospital
Collaborating Sponsor
You may qualify if you...
You will not qualify if you...
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants provide a single urine sample and undergo a single blood draw.
1 visit (in-person)
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
Duration - 1 day
Participants provide a urine sample and undergo a muscle biopsy once.
1 visit (in-person)
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)
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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Layal Antoury, Ningyan Hu, Leonora Balaj...
https://pubmed.ncbi.nlm.nih.gov/30254196/Layal Antoury, Ningyan Hu, Basil Darras...
https://pubmed.ncbi.nlm.nih.gov/31211175/Massachusetts General Hospital
Lead Sponsor
Boston Children's Hospital
Collaborating Sponsor