Neuromuscular disease

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 tests whether metformin, a drug that improves insulin sensitivity, can help overweight children with neurological or neuromuscular conditions. These children often face mobility challenges that lead to a sedentary lifestyle and weight gain. The study compares six month…

This study tested a drug called ataluren in 360 boys with Duchenne muscular dystrophy caused by a specific genetic mistake (nonsense mutation). The main goal was to see if ataluren could help them walk farther over 72 weeks compared to a placebo. All participants were also taking…

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 new drug, ABC008, in 272 adults with inclusion body myositis, a rare muscle-weakening disease. The goal was to see if the drug is safe and can help slow the disease's progression. Participants received either ABC008 or a placebo, and their muscle function was …

This Phase 3 trial tested apitegromab, a drug that blocks a muscle-limiting protein, in 188 nonambulatory children and young adults with later-onset spinal muscular atrophy (SMA types 2 and 3). All participants were already taking standard SMA therapies (nusinersen or risdiplam).…

This early-stage study tested a new cell therapy called MuSK-CAART in 7 people with a rare, severe form of myasthenia gravis (MuSK MG). The treatment uses a patient's own immune cells, modified to attack the harmful antibodies causing the disease. The main goal was to check safet…

Researchers are testing whether a tablet-based, game-like version of the Motor Function Measure (MFM) gives consistent results compared with the standard paper-based scale. The study includes 70 people aged 2 to 60 with a confirmed neuromuscular disease. Participants complete the…

This study tests a special fabric shoulder brace designed to mimic muscle support for people with neuromuscular disorders like muscular dystrophy, SMA, and ALS. About 30 participants will wear the brace and perform arm tasks to see if it improves movement, strength, and daily fun…

This study tests whether using a mechanical insufflation device (BiWaze Cough) twice daily for 6 months can slow the decline in cough strength in 20 people with early ALS. Participants will use a facemask or mouthpiece to help inflate their lungs fully before coughing. Researcher…

This study tested whether virtual peer support helps family caregivers of people with neuromuscular disease feel more in control and less isolated. About 100 Canadian caregivers joined online sessions with trained peer mentors. The goal was to improve caregivers' sense of mastery…

This study tested whether virtual reality (using Xbox Kinect) or biofeedback training could improve motor function and balance in 24 children with neuromuscular diseases like Duchenne muscular dystrophy and spinal muscular atrophy. Participants were split into three groups: VR tr…

This study tested a powered leg exoskeleton (Keeogo) in 50 people with various muscle disorders to see if it is safe and helps them walk better. Participants performed walking tests with and without the device. The goal was to see if the device could improve walking distance and …

This study tested a wearable robotic suit called MyoSuit that assists knee and hip movement in people with various muscle disorders. 32 participants used the device to perform walking tests, and researchers checked for safety and any immediate improvements in walking ability. The…

This study looked at whether adding manual therapy (hands-on techniques) to standard breathing exercises could improve breathing, fatigue, and trunk control in children with neuromuscular diseases. Twenty-eight children aged 7 to 18 took part. One group did only conventional phys…

This study tested a new automatic setting (Auto-EPAP) on a ventilator to see if it could better manage airway blockages during sleep compared to the standard manual setting. It involved 23 adults with conditions like sleep apnea, COPD, or obesity-related breathing problems who al…

This study tested whether a special suit called EXOPULSE Mollii can help adults with fibromyalgia feel less pain, fatigue, and depression. Twenty-eight participants wore either the active suit or a sham (fake) suit for two weeks, then had a washout period. After that, everyone co…

This study measured calf muscle thickness and length in 26 children with Duchenne muscular dystrophy (ages 6-12) who could still walk. Researchers used ultrasound and motion analysis to see how muscle structure relates to walking and other movements. The goal was to better unders…

This study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, …

This study explores whether a single bout of exercise can protect against muscle damage from a later session—a phenomenon called the repeated bout effect—in people with neuromuscular diseases. Unlike healthy individuals, patients with these conditions may experience muscle damage…

This study tests whether digital tools like smartphone apps, wearable sensors, and home spirometers can reliably track symptoms of neuromuscular diseases. Researchers will compare data collected at home with in-clinic measurements from 40 participants aged 12–60. The goal is to d…

This study tested a new sensor placed inside the nose to measure carbon dioxide levels in 21 people with breathing conditions like COPD or obesity-related breathing problems. The goal was to see if the sensor is safe, easy to use, and gives accurate readings compared to standard …

This study examined 47 female football players to see if those with Morton toe (a longer second toe) have different muscle and jumping abilities compared to those with normal feet. Researchers measured muscle contraction speed and reactive strength during jumps. The goal was to u…

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 study tested a French version of a questionnaire that measures physical activity levels in people with physical disabilities. Fifty participants with conditions like stroke, multiple sclerosis, or Parkinson's disease filled out the questionnaire twice, two weeks apart. The g…

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 completed study looked at why people with spinal muscular atrophy (SMA) often feel very tired and have trouble exercising. Researchers tested 34 ambulatory SMA patients who were already on standard treatments (risdiplam or nusinersen) for at least six months. Participants di…

This study looked at how cystinosis affects muscles, breathing, and swallowing in 20 teenagers and adults. Researchers measured motor function, strength, and walking ability over time. The goal was to better understand the disease's impact on the body, not to test a new treatment…

This study looked at 42 male football players, half with a recent hamstring strain and half without. Using muscle activity sensors, researchers found that injured players still had weaker activation in several muscles—not just the hamstring—up to six months later. These hidden de…