Studying RNA Biomarkers in Urine and Blood to Understand Myotonic Dystrophy

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.

Extracellular RNA Biomarkers of Myotonic Dystrophy