Congenital muscular dystrophy

This early-stage trial tests a brain-computer interface called BrainGate for people with paralysis from conditions like ALS or spinal cord injury. A small sensor is placed in the brain to interpret movement-related signals, allowing users to control a tablet computer just by thin…

This early-stage trial tests a new biologic drug called ARGX-119 in 16 adults with a rare genetic muscle weakness condition called DOK7-congenital myasthenic syndrome (CMS). The study aims to see if the drug is safe and how the body processes it. Participants will receive either …

This study is testing a handheld device called mScan that uses a tiny, painless electrical current to measure muscle health. Researchers want to see if it can give similar results to an MRI, but faster and more conveniently. The study involves 150 adults with and without muscle d…

This study looks at whether doing breathing exercises before orthopedic surgery (like knee, hip, or fracture repair) can help your lungs work better after the operation. It involves 36 adults who have used tobacco and are at risk for breathing problems after surgery. Participants…

This study tests whether a program of exercise and ergonomics training can reduce muscle and joint pain in teachers. About 80 teachers who have had pain for at least three months will be randomly assigned to receive the training or not. Researchers will measure changes in pain, d…

This study tests a web-based app called IAMABLE that provides evidence-based rehabilitation strategies for people with chronic conditions like heart disease, arthritis, or neurological disorders. Fifty adults aged 45 to 75 will use the app for 4 months to set goals and learn abou…

This study tests whether extra support for case managers helps veterans leaving the military better manage pain and reduce risky substance use. About 1800 veterans will take part. The program focuses on non-drug pain treatments and counseling.

This study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affe…

This study translates and tests several health questionnaires—covering pain, arm and leg function, mood, and daily activities—for use with Albanian-speaking people. Researchers will check if the translated versions are reliable and accurate by giving them to about 300 participant…

This study tests a new tool called the PRISM Dashboard, which gives physiotherapists feedback on how their decisions compare to their peers. The goal is to see if this feedback helps reduce differences in care for people with muscle and joint pain. About 60 physiotherapists and t…

This study explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…

This study watches how children under 5 with LAMA2-related muscular dystrophy move and develop over two years. Researchers will test muscle function, swallowing, breathing, and collect blood samples. The goal is to learn more about the disease so future treatments can be tested e…

This study follows 252 adults with muscle, bone, or joint problems (like arthritis, back pain, or after surgery) to see how well they do their prescribed home exercises. Researchers will track who sticks with the program and why, looking at factors like pain, mood, and support. T…

This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…

This study tests whether using a virtual reality (VR) headset during shoulder exercises helps patients feel more engaged and motivated. Fifty adults with shoulder problems will do rehab exercises in a VR environment and then answer questionnaires about how easy and immersive the …

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

This study aims to create a secure national database for muscle and joint (musculoskeletal) conditions by collecting routine data from community clinics and GP practices. About 22,000 adults will have their information anonymously gathered to help develop a dashboard that tracks …

This study watches 2000 people having hip or knee replacement surgery to see how long spinal anaesthesia lasts. The goal is to learn how the amount of anaesthetic affects timing, helping doctors decide if patients can safely go home the same day. No new treatments are tested—just…

This study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…

This study is a registry that collects health information from people in Switzerland who have neuromuscular disorders like SMA, DMD, BMD, and others. It aims to track symptoms, treatments, and outcomes over time to help researchers and doctors improve care. No new treatments are …

This study looks at how changing the heel cushion on an ankle-foot brace (AFO) affects walking in people who use one daily. Forty adults with leg injuries or nerve problems will try four different heel wedges—tall or short, soft or firm—while walking at controlled speeds. Researc…

This study looks at how 3D computer simulation and printing can help surgeons better plan and perform bone correction surgeries. Researchers will compare the planned corrections to the actual results in 100 children and young adults with rare bone deformities. The goal is to make…

This study follows 4,000 children who receive orthopedic implants (like rods or screws) during standard care for bone fractures, deformities, or hip problems. Researchers will track how long the implants last, any complications, and how well they work over time. The goal is to ga…

This study follows 144 adults with muscle or bone problems who are already scheduled to receive treatment with Chattanooga Intelect devices (like TENS or ultrasound). Researchers will measure pain, muscle strength, and movement range to confirm the devices are safe and work as ex…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …