MYOTONIC DYSTROPHY

This study tests a new medicine, DYNE-101, in 150 adults with myotonic dystrophy type 1, a condition that causes muscle weakness and stiffness. Participants will receive either the drug or a placebo for 48 weeks to see if it improves muscle function and daily activities. The goal…

This study tests a new gene therapy called SAR446268 for people aged 10 to 55 with myotonic dystrophy type 1, a genetic muscle disease. The therapy aims to reduce harmful RNA levels and improve muscle function. The trial has two parts: first, finding the safest dose, then testing…

This study aims to see if a blood test from the mother can accurately diagnose genetic disorders in the fetus, such as sickle cell disease or cystic fibrosis, as early as 9 weeks into pregnancy. The test uses fetal DNA found in the mother's blood, avoiding the miscarriage risk of…

This study tests whether a once-daily medication called mexiletine can safely reduce muscle stiffness (myotonia) in people with myotonic dystrophy types 1 and 2. About 176 adults aged 16 and older will receive either the drug or a placebo for 26 weeks. The main goal is to see if …

This registry aims to connect people diagnosed with myotonic dystrophy or facioscapulohumeral muscular dystrophy, along with their family members, with researchers studying these inherited muscle-weakening diseases. By joining, participants help scientists better understand the c…

This study is looking for a less invasive way to measure how active and severe myotonic dystrophy is. Instead of taking a piece of muscle (biopsy), researchers want to see if they can use a blood or urine sample to find biomarkers. They will compare samples from 215 people with a…

This study tests a portable digital device that analyzes walking without markers, comparing it to standard motion-capture systems. It includes 30 adults (ages 18-65) with certain neuromuscular diseases or healthy volunteers. The goal is to see if this simpler tool can reliably me…

This study aims to find less invasive ways to track muscular dystrophy, replacing painful muscle biopsies with simple blood and urine tests plus painless ultrasound and electrical muscle scans. Researchers will compare these new methods in 465 people with different types of muscu…

This study is developing a new MRI-based method to measure muscle changes in people with myotonic dystrophy, a condition that causes progressive muscle weakness. Researchers will scan the leg muscles of 75 adults (ages 18-65) with the disease and compare them to healthy volunteer…