Hereditary skeletal muscle disorder

This study tests two experimental drugs, ENTR-601-44 and ENTR-601-45, in people with Duchenne muscular dystrophy (DMD) who have already taken part in earlier studies. The goal is to see if long-term use is safe and tolerable, and whether it can help maintain muscle function. Part…

This study tests whether semaglutide (a GLP-1 drug used for weight loss) is safe for adolescents and young adults with Duchenne muscular dystrophy (DMD) who are also overweight or obese. The main concern is that the drug might reduce muscle mass, which is already weak in DMD. Par…

This study tests an oral drug called glycerol tributyrate in 24 adults with MELAS or LHON-Plus, two rare mitochondrial diseases that cause severe symptoms like strokes and vision loss. The trial is open-label (everyone gets the drug) and uses each person as their own control over…

This study tests whether adding sirolimus (a drug that calms the immune system) to ELEVIDYS gene therapy can prevent serious liver injury in boys with Duchenne muscular dystrophy. About 20 participants will receive the treatment and be monitored for side effects. The goal is to m…

This study tests an experimental drug called AOC 1044 for boys with Duchenne muscular dystrophy (DMD) who have a specific genetic change (exon 44 skipping). About 70 boys aged 7 to 16 who can still walk will receive either the drug or a placebo. The main goal is to see if the dru…

This study follows 80 babies with severe congenital diaphragmatic hernia (CDH) who had a special surgery called FETO while still in the womb. Researchers want to see if these babies survive to leave the hospital more often and have fewer long-term health issues compared to babies…

This study tests a daily injection called elamipretide in 48 people with genetically confirmed Barth syndrome, a rare condition that causes muscle weakness and heart problems. Participants will receive either the drug or a placebo for 72 weeks. The main goal is to see if the drug…

This study tests a medicine called surlorian in 28 adults with a rare genetic muscle disease (RYR1-related myopathy) that causes weakness. The goal is to see if surlorian improves muscle strength and function, like standing from a chair or walking. Participants will be randomly a…

This early-stage trial tests UX016, a drug designed to help people with GNE myopathy, a rare genetic muscle-weakening disease. Researchers will give the drug or a placebo to 24 adults to see if it is safe and improves muscle strength. The study is not yet recruiting.

This study tests the safety of a drug called rituximab in 5 boys aged 6-10 with Duchenne muscular dystrophy (DMD) who can still walk. The drug aims to lower certain immune proteins to possibly slow muscle damage. Researchers will monitor side effects and measure changes in walkin…

This study tests whether a person's own stem cells, processed and given by IV, can safely help with multiple system atrophy (MSA) — a rare, worsening brain disease that affects movement and automatic body functions like blood pressure. Fifty adults aged 35 to 65 will receive eith…

This Phase 2 study tests a drug called apitegromab in 60 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes muscle weakness. Participants will receive either the drug or a placebo every 4 weeks for a year. The main goal is to see if the dru…

This study will test a mobile brain-computer interface (iBCI) that lets people with severe paralysis control computers and mobile devices using only their thoughts. Two veterans with conditions like spinal cord injury or ALS will use the device at home. The goal is to see if the …

This study looks at whether inhaled nitric oxide can help newborns with a hole in their diaphragm (congenital diaphragmatic hernia) who also have high blood pressure in their lungs. About 40 babies will receive the gas, and doctors will check if their oxygen levels improve within…

This phase III trial tests a procedure called FETO for severe congenital diaphragmatic hernia (CDH), where the diaphragm is incomplete and organs move into the chest. Doctors place a temporary balloon in the baby's windpipe before birth to help the lungs grow. The study will comp…

This study tests whether a new medicine called Fexuprazan (Fexuclue) can prevent stomach ulcers caused by NSAID painkillers like ibuprofen. About 360 adults with joint or muscle pain who need daily NSAIDs will take either Fexuprazan or an older drug (Lansoprazole) for 24 weeks. T…

This study tests whether cycling while using a virtual park app can slow the loss of motor function in children and teens with neuromuscular diseases like muscular dystrophy. Twenty-two participants will first receive standard care for 3 months, then use the virtual park bike 3 t…

This study will test different types of strengthening exercises in 45 children aged 6 to 10 with Duchenne muscular dystrophy (DMD). The goal is to see if these exercises can improve muscle strength, walking distance, and chemical markers in the blood. The results could help guide…

This early-phase trial will test four orthobiologic treatments—PRP, bone marrow concentrate, hyaluronic acid, and nanofat—in 300 adults with various muscle, joint, tendon, or bone conditions. The goal is to see if these natural substances can reduce pain and improve joint functio…

This study tests whether a gamified mobile app can help 46 boys aged 6–12 with Duchenne muscular dystrophy stay motivated with their home physiotherapy. The app includes rewards, levels, and feedback to make exercise more engaging. Researchers will measure physical function, endu…

This study looks at whether a mobile app can help people with common pains (neck, shoulder, back, or knee) do their prescribed home exercises more regularly. About 30 adults will be split into two groups: one using the app and one doing traditional exercises. The goal is to see i…

This study tests whether inhaled salbutamol, a drug used for asthma, can reduce breathing distress in newborns with transient tachypnea of the newborn (TTN). TTN is a common lung condition after birth where fluid stays in the lungs, causing fast breathing. The trial will enroll j…

This study tests whether a multicomponent support group can improve the confidence (self-efficacy) of primary caregivers of children with Duchenne muscular dystrophy or spinal muscular atrophy in Pakistan. Thirty caregivers will join group sessions with doctors, therapists, and o…

This early-stage trial tests amlodipine, a calcium channel blocker used for high blood pressure, in 20 adults with myotonic dystrophy type 1. The goal is to see if the drug is safe and can improve muscle strength, reduce stiffness, and help with daily function. All participants w…

This study tests whether a wearable sensor (Syde device) can reliably measure arm and hand function in boys with Duchenne muscular dystrophy who can no longer walk. Current tests are done in clinics and may miss small changes. The goal is to see if home-based digital monitoring i…

This study looks at people aged 65 and older who have signs of brain blood vessel disease on a past scan but no history of stroke, dementia, or other major brain conditions. Researchers will collect information on daily function, thinking skills, speech, and any new vascular even…

This study aims to translate and adapt a widely used questionnaire for musculoskeletal problems into Urdu. Researchers will enroll 110 Urdu-speaking adults, including patients with muscle or joint issues and healthy volunteers. The goal is to create a validated tool to measure sy…

This study looks at how patients feel when reading their own medical notes. Some will read the original doctor's note, others will read a simpler version written by artificial intelligence. Researchers want to see if the AI summary changes how much patients trust their doctor or …

This study will follow 500 boys aged 1 to 18 with Duchenne or Becker muscular dystrophy for several years. Researchers will track their muscle function, body composition, lab tests, and heart and lung imaging to map how the disease changes over time. The goal is to create a model…

This study follows up to 10 people of any age with nemaline myopathy, a rare muscle disease, for three years. Researchers will collect information during regular hospital visits to understand how the disease changes over time. The goal is to find better ways to measure disease pr…

This study is creating a registry for people with Duchenne and Becker muscular dystrophy, as well as symptomatic female carriers. The goal is to collect health data and quality-of-life information to monitor how new therapies work in real-world settings. Up to 1,500 participants …

This study aims to identify the many factors that influence how physically active children with Duchenne Muscular Dystrophy (DMD) are. Researchers will look at muscle strength, balance, thinking skills, sleep, behavior, and family environment. The goal is to gather information th…

This study tests a more sensitive ultrasound method called speckle tracking echocardiography (STE) to check heart function in newborns. Researchers will scan healthy babies and those with conditions like lung disease or oxygen deprivation to establish normal values and track chan…

This study tests a decision support system called SmaRTWork to help people on sick leave due to muscle or back pain return to work. About 298 adults in Norway will either use the system or receive usual care. The main goal is to see if the tool helps them return to work sustainab…