Progressive muscular dystrophy

This study tested a new medicine called AOC 1020 in 90 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes muscle weakness. The goal was to check if the drug is safe and how the body processes it. Participants received either the drug or a p…

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 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 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 completed pilot study tested whether a computer algorithm could diagnose facioscapulohumeral muscular dystrophy (FSHMD) by analyzing video recordings of people's faces. Researchers recorded 17 participants, including patients with FSHMD, other muscle diseases, and healthy co…

This study tested a Turkish version of the Johns Hopkins In-Room Independence Scale, which measures a patient's ability to move, use the toilet, and think clearly while in their hospital room. Researchers worked with 100 adults who had conditions like stroke, Parkinson's, or ampu…

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 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 how common muscle and posture problems are in physiotherapy students and whether a special physiotherapy program could help. 44 students with back pain and muscle tightness received treatments like trigger point release, stretching, and joint mobilization. Th…

This study looked at whether letting patients control their own sedation during arm surgery under regional anesthesia leads to higher satisfaction compared to having an anesthesiologist control it. 70 adults having upper limb orthopedic surgery were randomly assigned to either pa…

This study translated the Generic Functional Index, a questionnaire that measures how well people can do daily activities, into Turkish. Researchers tested it with 200 adults who have muscle or joint problems to see if it is accurate and reliable. The goal is to give Turkish-spea…

This completed study looked at how muscle oxygen levels change during exercise in people with various neuromuscular diseases compared to healthy volunteers. Seventeen participants did a knee-extension exercise while a device measured muscle oxygen. The goal was to understand diff…

This pilot study examined whether inflammation, measured by cytokines in the blood, plays a role in type 1 facioscapulohumeral muscular dystrophy (FSHD1). Researchers compared 20 FSHD1 patients with healthy controls to see if certain inflammatory markers are higher in the disease…

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 tested whether specially trained physiotherapists can safely diagnose and treat non-urgent muscle and joint pain in the emergency room, compared to standard care from doctors. 102 patients with back, neck, or shoulder pain were randomly assigned to either a physiothera…

This study tested a new method to evaluate the strength and function of face and mouth muscles in people with facioscapulohumeral muscular dystrophy (FSHD). Twenty-two adults with a genetic diagnosis of FSHD took part. The goal was to see if this new assessment tool can reliably …

This study involved 116 people with Limb Girdle Muscular Dystrophy (LGMD), a group of rare muscle-weakening disorders. Researchers measured how well participants could walk, move their arms, and breathe, and asked about their daily activities and overall health. The goal was to i…

This study tested whether a mobile app (myFSHD) can help doctors monitor patients with facioscapulohumeral muscular dystrophy (FSHD) remotely. 70 adults with FSHD used the app at home for 12 months, completing questionnaires and video-recorded exercises. The goal was to see if pa…

This study followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …

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 tested whether ultrasound can detect early facial muscle changes in people with facioscapulohumeral muscular dystrophy (FSHD), a rare muscle disease. Researchers compared 20 FSHD patients with 19 healthy adults, measuring muscle thickness and echo intensity in key faci…

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 completed study compared how well people with complex regional pain syndrome (CRPS), people with other muscle or bone pain, and healthy individuals can imagine movements. Researchers used a questionnaire called the MIQ-RS to measure motor imagery skills. The goal was to see …

This study surveyed 116 adults with chronic pain at a rehabilitation clinic to understand how their pain beliefs, spiritual well-being, and attitudes toward complementary and alternative medicine are related. Participants filled out several questionnaires about their pain, mood, …

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…