Myotonic syndrome

This study is a follow-up to an earlier trial, testing the long-term safety and effects of a drug called AOC 1001 in adults with myotonic dystrophy type 1 (DM1), a genetic muscle disease. 37 participants who completed the first study received multiple doses of AOC 1001 by IV infu…

This trial evaluates the long-term safety and effectiveness of mexiletine in children aged 6 to 18 with myotonic disorders, conditions where muscles have trouble relaxing after contraction. Participants, who previously completed a study of mexiletine, receive the drug for about 8…

This phase 3 trial tests an experimental drug called AOC 1001 in 159 adults with myotonic dystrophy type 1, a genetic condition that causes muscle weakness and stiffness. Participants receive either the drug or a placebo by intravenous infusion. The main goal is to see if the dru…

This study tested a new drug called AOC 1001 in 39 adults with myotonic dystrophy type 1, a genetic muscle disorder. Participants received either the drug or a placebo by IV infusion. The goal was to check safety and how the drug moves through the body. Results will help decide i…

This early-stage trial tested a single dose of the drug PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a genetic muscle disorder. The main goal was to check safety and how the body handles the drug. The study is complete, but results are not yet available.

This study tested a drug called tideglusib against a placebo in 56 children aged 6 to 16 with congenital myotonic dystrophy, a rare genetic muscle disorder. The goal was to see if tideglusib could reduce symptoms like muscle weakness and breathing problems. The trial was complete…

This phase 2 study tested the safety and effectiveness of tideglusib, an experimental drug, in 16 adolescents and adults with congenital or juvenile-onset myotonic dystrophy type 1. Participants received either 400 mg or 1000 mg of tideglusib daily. The study measured side effect…

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…

This phase 2 trial tests whether pitolisant, a wake-promoting drug, can reduce excessive daytime sleepiness in adults aged 18 to 65 with myotonic dystrophy type 1. Participants receive either pitolisant or a placebo for a period, and researchers measure changes in sleepiness, fat…

This study tests whether virtual reality training can help children aged 6 to 16 with the childhood form of myotonic dystrophy type 1 (DM1) improve their ability to understand others' thoughts and emotions. Participants engage in social scenarios in a virtual environment, guided …

This study followed 53 adults with non-dystrophic myotonic disorders who were taking Namuscla (mexiletine) to manage muscle stiffness. Researchers monitored side effects and how often patients needed to reduce their dose or stop treatment over up to 36 months. The goal was to see…

This study looked at 537 people with myotonic dystrophy type 1 to understand their risk of serious heart rhythm problems, including sudden cardiac arrest. Researchers tracked participants for two years to see how often these events happened and what factors might predict them. Th…

This study followed 30 adults with myotonic dystrophy type 1 (Steinert disease) and 30 healthy volunteers over three years to see how muscle strength and function change naturally over time. Researchers measured things like muscle power, walking ability, and nerve responses to fi…

This study followed 113 adults with myotonic dystrophy (Steinert's disease) for 5 years to find out what factors lead to low breathing (hypoventilation). Researchers measured lung function, sleepiness, fatigue, and thinking skills. The goal is to better understand which patients …

This study investigates why people with myotonic dystrophy type 1 are 10 times more likely to develop dangerous blood clots in the legs or lungs. Researchers will compare blood samples from 130 participants—including patients with the disease, those with a history of clots, and h…