Hereditary skeletal muscle disorder

This pilot trial tests a procedure called FETO for fetuses with severe congenital diaphragmatic hernia (CDH), a condition where the diaphragm has a hole and the lungs don't develop fully. In FETO, a balloon is temporarily placed in the fetal windpipe to encourage lung growth, the…

This phase 2 trial tests an experimental drug called KER-065 in adult and pediatric males with Duchenne Muscular Dystrophy (DMD), a genetic condition that causes progressive muscle weakness. The study includes both those who can walk and those who cannot, and all participants mus…

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 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 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 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 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…

Pseudo-angina is chest pain that feels like a heart attack but comes from muscle knots, not the heart. This trial tests whether two hands-on treatments—Graston Technique (using a stainless-steel tool to massage muscles) and local ischemic compression (sustained finger pressure on…

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 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 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 looks at how the absence of a protein called Dp140 in people with Becker muscular dystrophy might affect the brain, thinking, and muscle function. Researchers will use brain and muscle imaging, along with cognitive and psychological tests, to explore these connections.…

This study follows 100 adults with myotonic dystrophy (types 1 or 2) for two years to understand how muscle stiffness, daily function, and heart health change over time. Researchers will look back at up to 18 months of past medical records and then track participants with clinic …

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 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 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…