Hereditary skeletal muscle disorder

This study tests a gene therapy called SAR446268 for people aged 10 to 55 with myotonic dystrophy type 1. The therapy is given once through an IV and aims to reduce harmful DMPK RNA and improve muscle function. The trial has two parts: first, finding the safest dose in a small gr…

This study tests an oral drug called SAT-3247 in 51 boys aged 7 to 10 with Duchenne muscular dystrophy who can still walk. The goal is to find the best dose, check safety, and see if it helps muscle strength. Participants take the drug or a placebo for 12 weeks, and all continue …

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…

Researchers are testing a combination of two drugs, doxecitine and doxribtimine, in adults with thymidine kinase 2 (TK2) deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The study will enroll about 15 adults with moderate to severe disease.…

This phase 3 trial tests whether a new drug called ABP 938 works as well as the approved treatment Eylea HD for wet age-related macular degeneration, a leading cause of vision loss. About 304 people aged 50 and older with untreated wet AMD will receive injections of either drug i…

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 tests a one-time gene therapy called delandistrogene moxeparvovec in 83 people with Duchenne muscular dystrophy. The goal is to see if it is safe and helps the body make dystrophin, a protein missing in Duchenne. The trial is now enrolling non-ambulatory participants (…

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 early-phase trial tests a new gene therapy called ASP2957 for X-linked myotubular myopathy (XLMTM), a rare muscle disease present at birth that often requires a ventilator to breathe. The therapy delivers a healthy copy of the MTM1 gene using a modified virus. Nine boys up t…

This Phase 3 trial tests whether DYNE-101 can improve muscle function and daily life in 150 adults with myotonic dystrophy type 1 (DM1). Participants receive either the drug or a placebo by IV every few weeks for 48 weeks. The study measures how quickly people can stand from a ch…

This study tests a brain implant that records and stimulates brain areas to help adults with severe paralysis (from spinal cord injury, ALS, or stroke) control assistive devices like computers or wheelchairs. The main goal is to check safety, and researchers will also see if part…

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 program provides access to an experimental drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. The goal is to help control the disease and improve muscle function. Participants must be at least 2 years …

This trial is testing whether a lower weekly dose of the corticosteroid prednisolone (5 mg/kg per week) can be as effective as the standard higher dose (10 mg/kg per week) in preserving motor function in young boys with Duchenne muscular dystrophy (DMD). The study will enroll boy…

This study tests a one-time gene therapy called SGT-003 in 80 boys with Duchenne muscular dystrophy who can still walk. The goal is to see if it helps them move better, like standing up faster and climbing stairs. Participants will receive either the therapy or a placebo first, t…

This study tests an investigational drug called ENTR-601-44 in 24 boys and young men with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping a specific part of the gene (exon 44). The trial has two parts: first, to find the safest and most effecti…

This study tests an investigational drug called ENTR-601-45 in people with Duchenne muscular dystrophy (DMD) who have a specific genetic change (exon 45 skipping). The goal is to check the drug's safety, find the right dose, and see if it can help muscles work better. About 24 ma…

This study tests a new drug called ARO-DM1 in 78 adults aged 18-65 with type 1 myotonic dystrophy, a genetic muscle disorder. The goal is to check safety and how the body processes the drug. Participants receive either ARO-DM1 or a placebo by IV or injection. It is an early-stage…

This study tests an experimental drug called ARO-DUX4 in people with facioscapulohumeral muscular dystrophy type 1 (FSHD1), a genetic condition that causes muscle weakness. The main goal is to check the drug's safety and how the body processes it. About 60 adults and teens will r…

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This early-stage study tests a new treatment called RD06-05, a universal CAR-T cell therapy, in up to 84 adults with autoimmune diseases like lupus, vasculitis, and scleroderma. The therapy targets and removes faulty immune cells to help control the disease. The main goal is to c…

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders (LC-FAOD) who have few treatment options and cannot join a clinical trial. The goal is to help manage the disease by providing an alternative energy source for the body…

This study is tracking 245 hernia patients who receive the GORE ENFORM biomaterial mesh during surgery. The mesh is absorbable and used to reinforce the repair. Researchers will monitor hernia recurrence, infections, and other complications for up to two years. The goal is to see…

This study tests an investigational drug called PGN-EDODM1 in 24 adults with myotonic dystrophy type 1, a condition causing muscle stiffness and weakness. Participants receive multiple doses of the drug or a placebo by IV to check safety and how the body processes it. The goal is…

This phase 3 trial tests an experimental drug called AOC 1020 in 200 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo by IV infusion. The study measures muscle…

This phase 3 trial tests whether givinostat, an oral drug, can slow muscle decline in boys aged 9 to 18 with Duchenne muscular dystrophy who can no longer walk. Participants receive either givinostat or a placebo for 18 months. The main goal is to see if the drug helps maintain u…

This trial tests a procedure called FETO (fetoscopic endoluminal tracheal occlusion) for babies diagnosed before birth with a severe form of congenital diaphragmatic hernia (CDH). In CDH, a hole in the diaphragm lets abdominal organs push into the chest, preventing the lungs from…

This study follows 250 boys (ages 2 and older) with Duchenne muscular dystrophy who are taking vamorolone (AGAMREE). Researchers will monitor side effects, growth, bone health, heart function, and quality of life over time. The goal is to better understand the long-term safety an…

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 study tests a single dose of SGT-003, a gene therapy that delivers a working version of the dystrophin gene to muscle cells. About 60 boys with Duchenne muscular dystrophy, aged from infancy to under 18, will receive the treatment and be followed for 5 years. The goal is to …

This study follows about 300 people with Duchenne muscular dystrophy who are taking the drug givinostat as part of their normal care. Researchers will track safety issues like low platelet counts and bleeding, and see how patients' muscle function changes over up to 5 years. The …

This study tests a single intravenous dose of a gene therapy called GNR-097 in boys aged 4 to 9 with Duchenne muscular dystrophy (DMD). The therapy uses a harmless virus to deliver a shortened version of the dystrophin gene, which is missing or faulty in DMD. The trial aims to se…

This study tests a fetal surgery called FETO for severe congenital diaphragmatic hernia (CDH), a condition where a hole in the diaphragm allows organs to crowd the lungs. Researchers will place a tiny balloon in the fetal windpipe to encourage lung growth, then remove it before b…

This study tests a procedure called FETO, done during pregnancy, for babies with a severe congenital diaphragmatic hernia (CDH). The goal is to see if FETO helps more babies survive after birth and have fewer long-term health issues compared to standard care. The study will enrol…

This early-stage study tests a new gene-editing medicine called PBGENE-DMD in 18 boys aged 2 to 7 with Duchenne muscular dystrophy. The treatment aims to correct the genetic mistake that causes the disease, potentially restoring muscle strength. Researchers are first checking if …

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 trial tests a procedure called FETO, where a small balloon is placed in the windpipe of a fetus with severe left congenital diaphragmatic hernia (CDH). The balloon blocks the airway temporarily, which may help the lungs grow larger before birth. The study includes pregnant w…

This study tests the safety and feasibility of the BrainGate2 system, a brain-computer interface. Tiny sensors are placed in the brain area that controls movement, allowing people with tetraplegia (paralysis of all four limbs) to control a computer cursor or other assistive devic…

This study tests a new medicine called DYNE-251 in boys aged 4 to 18 with Duchenne muscular dystrophy (DMD) who can still walk. The goal is to see if it helps them move better and slows muscle damage. Participants will receive either the drug or a placebo every 4 weeks for about …

This study tests a simple change at birth: instead of clamping the umbilical cord right away, doctors will keep it intact while helping the baby breathe. The goal is to see if this improves heart and lung function in full-term infants with congenital diaphragmatic hernia (CDH), a…

This study is testing whether a drug called tadalafil (often used for erectile dysfunction) combined with a home cycling program can help boys with Duchenne muscular dystrophy. The drug aims to improve blood flow to muscles, which is often poor in DMD, while exercise builds stren…

This study tests a new medicine, DYNE-101, in 116 adults with myotonic dystrophy type 1 (DM1), a condition that causes muscle weakness and stiffness. The main goals are to check if the drug is safe and if it can reduce muscle stiffness and improve muscle function. Participants re…

This early-phase trial tests a gene therapy called SPOT-03 in 9 boys with Duchenne muscular dystrophy (DMD), aged 2 to 8. The main goal is to see if the treatment is safe and tolerable. Researchers will also check if it increases dystrophin protein levels in muscles, which could …

This study looks at a fetal surgery called FETO for babies with a severe diaphragmatic hernia, where organs move into the chest. The surgery places a balloon in the baby's windpipe to help the lungs grow, then removes it before birth. Researchers will compare 40 babies who get FE…

This study is testing the long-term safety of an experimental drug called PGN-EDODM1 in 48 adults with myotonic dystrophy type 1 (DM1) who have already taken the drug in a previous study. Participants will receive the drug by IV infusion and be monitored for side effects. The goa…

This pilot study tests a procedure called FETO, where a tiny balloon is placed in the fetus's windpipe to encourage lung growth. It is for pregnancies where the baby has severe left congenital diaphragmatic hernia (CDH) and very small lungs. The study will enroll 20 participants …

This early-phase trial tests whether injecting lab-grown muscle cells (MyoPAXon) into the foot is safe for adults with Duchenne muscular dystrophy who can no longer walk. Eight participants will receive the cells along with an immunosuppressant drug to prevent rejection. The main…

This early-stage study is testing whether clenbuterol, a drug used for breathing problems, is safe for people with facioscapulohumeral muscular dystrophy (FSHD). About 30 adults with FSHD will receive one of three doses of the drug. Researchers will monitor side effects, heart ra…

This study tests a procedure called FETO for unborn babies with a severe form of congenital diaphragmatic hernia (CDH), where the diaphragm has a hole and the lungs don't grow well. Doctors place a tiny balloon in the baby's windpipe to block it, which may help the lungs expand a…

This study tests a new drug called ATX-01 in 56 adults with myotonic dystrophy type 1, a condition that causes muscle stiffness and weakness. The drug aims to block a molecule that may contribute to the disease. The trial will first give a single dose, then multiple doses, to che…

This study tests a procedure called FETO, where a tiny balloon is placed in the fetus's windpipe to help the lungs grow. It focuses on babies with severe congenital diaphragmatic hernia (CDH), a condition where abdominal organs move into the chest and stunt lung development. Rese…

This study tests a procedure called FETO for babies with a severe birth defect where the diaphragm has a hole, allowing organs to crowd the lungs. A tiny balloon is placed in the baby's windpipe while still in the womb to help the lungs grow. The study tracks how many babies surv…

This study tests a procedure called FETO in 10 pregnant women carrying babies with a severe form of congenital diaphragmatic hernia (CDH). The procedure places a small balloon in the baby's windpipe to block it, which helps the lungs grow larger before birth. The balloon is remov…

This pilot study tests a procedure called FETO in 10 unborn babies with severe left congenital diaphragmatic hernia (CDH). In CDH, a hole in the diaphragm allows organs to move into the chest, preventing normal lung growth. FETO involves placing a tiny balloon in the baby's windp…

This phase 1 trial tests N-acetylcysteine (NAC), an antioxidant, in 18 adults with a specific mitochondrial disease caused by the m.3243A>G mutation and low brain glutathione levels. Participants take one of three daily doses (1800, 3600, or 5400 mg) for 3 months to find the safe…

This program offers ongoing access to vamorolone, a steroid-like drug, for boys with Duchenne muscular dystrophy who finished earlier studies. It aims to keep them on treatment while the drug is being reviewed for approval. Participants take vamorolone daily by mouth at doses cho…

This study looks at the long-term safety and effects of the drug givinostat in people with Duchenne muscular dystrophy (DMD). It is open to those who have already taken part in a previous givinostat study. The goal is to track side effects and see how well the drug works over tim…

This study tests a single injection of BB-301 directly into throat muscles to improve swallowing in people with oculopharyngeal muscular dystrophy (OPMD). About 30 adults aged 50-65 with swallowing problems will receive the injection during a short surgery. Researchers will check…

This study tests a procedure called FETO for unborn babies with a severe diaphragmatic hernia, where organs move into the chest and harm lung growth. A tiny balloon is placed in the baby's windpipe around 27 weeks of pregnancy to help the lungs grow, then removed around 34 weeks.…

This study tests an experimental drug called WVE-N531 in 26 people with Duchenne muscular dystrophy who have a specific genetic flaw (exon 53 mutation). The drug is designed to help the body make a shortened but working version of dystrophin, a protein missing in DMD. The trial w…

This early-stage study tests a gene therapy called BBM-D101 in 9 boys aged 4 to 8 with Duchenne muscular dystrophy (DMD). The goal is to see if it is safe and can help produce a missing protein in muscles. Researchers will monitor side effects and measure changes in muscle health…

This study tests a new breast reconstruction method for women who have had breast cancer or have Poland syndrome. The approach uses a special tissue expander to stretch the skin, followed by fat grafting from the patient's own body, and finally a permanent breast implant. The goa…

This study tests a wearable robotic exoskeleton designed to improve walking in children aged 3 to 17 with conditions like cerebral palsy, spina bifida, muscular dystrophy, or incomplete spinal cord injury. The device fits on the legs and can assist or resist movement during walki…

This phase 3 trial tests a procedure called FETO, where a balloon is placed in the windpipe of a fetus to help lungs grow. It is for pregnant women carrying a baby with severe congenital diaphragmatic hernia, a condition where the diaphragm has a hole and organs move into the che…

This study tests an experimental drug called SCT520FF for wet age-related macular degeneration (AMD), a leading cause of vision loss. About 82 adults aged 45 to 80 will receive either SCT520FF or an existing treatment (EYLEA) via eye injections. Researchers will check safety, sid…

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

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 is testing a small device called a nanosensor that measures oxygen levels in muscle tissue. The goal is to see if it can accurately assess mitochondrial function in people with mitochondrial myopathy compared to healthy volunteers. If it works, this sensor could become…

This early-stage study tests a small nanosensor placed under the skin in the forearm to measure oxygen levels in muscle, which reflects how well mitochondria are working. Researchers will compare results from 24 people—some with mitochondrial myopathy and some healthy—to see if t…

This pilot study tests whether VM100, a nutritional supplement made from ten natural ingredients, can improve quality of life for people with Duchenne muscular dystrophy (DMD). About 20 participants aged 8 and older will take VM100 or a placebo for 10 weeks. Researchers will meas…

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 trial tests a 12-session telecare program for children aged 7 to 17 with limb-girdle muscular dystrophy. The group-based intervention focuses on social cognition, emotional management, and coping strategies to improve quality of life and reduce symptoms. Participants attend …

This study tests whether the drug sonlicromanol can reduce fatigue and improve physical abilities like balance and leg strength in adults with a specific genetic form of mitochondrial disease. About 220 participants will take either the drug or a placebo twice daily for 52 weeks.…

This study tests whether a personalized mix of endurance and strength exercises, done at home with video check-ins, can improve mobility and muscle strength in people with mitochondrial myopathy. Fifteen adults with confirmed genetic mutations will follow the program for up to 12…

This study tests whether a personalized exercise program can improve balance and physical function in adults with rare neuromuscular disorders like Charcot-Marie-Tooth disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy type 1. Participants will receive a 12-d…

This study tests whether playing virtual reality games can help people with Duchenne muscular dystrophy improve their arm and hand function. 36 participants will either receive standard physiotherapy or the same therapy plus VR games using a Meta Quest 3 headset. The games are de…

This study tests a powered leg brace called the Nomad in 36 people who have trouble walking due to conditions like stroke, multiple sclerosis, or spinal cord injury. Participants will use the brace at home for three months to see if it improves their walking speed, balance, and q…

This study tests whether taking amino acid supplements, along with a special diet and exercise program, can help people with facioscapulohumeral muscular dystrophy (FSHD) gain muscle, lose fat, and improve physical abilities like walking and strength. About 48 adults with FSHD an…

This study tests whether a physical therapist-guided exercise program can improve strength and walking ability in adults with myotonic dystrophy type 2 (DM2). Twenty-four participants will be split into three groups, each doing the same exercises but with different levels of ther…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study looks at whether the Alexander technique, a method that teaches better posture and movement habits, can help children aged 5 to 9 with Duchenne muscular dystrophy control their upper limbs and feel better day-to-day. About 33 kids will take part, and researchers will m…

This Phase 3 trial tests whether a once-daily dose of mexiletine PR can safely reduce muscle stiffness (myotonia) in people with myotonic dystrophy types 1 and 2. About 176 participants will receive either the drug or a placebo for 26 weeks. The main measure is how quickly hand m…

This study tests whether a fun, game-based occupational therapy program can improve quality of life, daily skills, and emotional health in 20 teens with Duchenne muscular dystrophy. Participants will use a computer or tablet at home. Researchers will compare results to standard t…

This study tests a new home-based program that uses a special treadmill and virtual reality to help children with conditions like cerebral palsy, muscle diseases, or obesity improve their walking. About 30 children aged 6 to 17 will try the program at home for at least 3 sessions…

This study tests a new extended-release form of mexiletine (mexiletine PR) against the standard immediate-release version in people with non-dystrophic myotonias, a group of rare genetic disorders that cause muscle stiffness. About 24 adults aged 16 and older will take each versi…

This early-stage study tests whether stem cells from umbilical cord lining can safely help people with FSHD, a genetic muscle-weakening disease. Sixteen adults will receive two doses of the cells and two doses of a placebo (saline) through an IV, in random order. The main goal is…

This phase 3 trial is testing whether metformin, a common diabetes drug, can improve muscle function in adults with myotonic dystrophy type 1 (Steinert's disease). The study will enroll 142 participants who will receive either metformin or a placebo for 6 months. Researchers will…

This study follows up to 10 children from birth to under 6 years old who have genetic muscle disorders causing stiffness (myotonia) and are taking mexiletine. Researchers will collect data on side effects and how the medicine is used in routine care over the long term. The goal i…

Laminopathies and emerinopathies are rare disorders caused by mutations in the LMNA or EMD genes, often affecting skeletal muscles and the heart. Researchers at French hospitals are building a registry of 800 patients with confirmed mutations to record detailed genetic, neurologi…

This observational study aims to better understand primary mitochondrial myopathy, a rare muscle disease. Researchers will follow 1300 patients and healthy controls, measuring muscle strength, balance, and daily function over time. The goal is to develop and validate tools to tra…

Researchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…

This study uses ultrasound, a safe imaging technique that uses sound waves, to get detailed pictures and measurements of nerves and muscles. Researchers aim to collect normal values from healthy adults and compare them with data from people who have neuromuscular disorders. The g…

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 global study follows people with POLG-related disorders, a group of rare mitochondrial conditions, to understand how the disease progresses over time. By observing clinical changes in up to 300 participants of all ages, researchers aim to identify key milestones that could s…

This study follows 150 people aged 7 and older with RYR1-related muscle disorders for 3 to 5 years. Researchers will collect medical history, perform physical exams, and use questionnaires, activity trackers, and tests of heart, lung, and muscle function. The goal is to better un…

This study follows 1,000 adults with myotonic dystrophy type 1 (DM1) over time to measure how the disease progresses. Researchers will track walking speed, hand muscle relaxation, grip strength, heart and lung function, and daily activity. The goal is to establish reliable biomar…

This study follows 50 adults with facioscapulohumeral muscular dystrophy type 2 (FSHD2), a rare inherited muscle disease, for 18 months. Researchers will measure muscle function and severity using standard clinical tests and collect blood samples to look for markers that might pr…

This study will test how the heart drug empagliflozin is absorbed and processed in 10 children with Duchenne muscular dystrophy, ages 8 to 18. The goal is to find the best dose for protecting the heart in this rare disease. Participants will take the drug by mouth and have blood …

This study is building a UK-wide registry of people with facioscapulohumeral muscular dystrophy (FSHD), a rare genetic condition causing progressive muscle weakness. Participants complete questionnaires about their symptoms, pain, quality of life, and medical history. The goal is…

This study follows 105 boys from birth to age 3 who have Duchenne muscular dystrophy (DMD), identified through newborn screening. Researchers will measure motor and cognitive skills over time to understand how the disease develops in early childhood. The goal is to gather informa…

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 aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study looks at whether not using inhaled nitric oxide (iNO) in newborns with congenital diaphragmatic hernia (CDH) leads to better outcomes, like fewer needing life support or dying. About 600 babies from multiple hospitals will be included. The goal is to see if stopping th…

This study follows about 50 boys under 18 with X-linked myotubular myopathy (XLMTM), a rare genetic muscle condition, to see how often they develop liver problems like cholestasis. No drugs are given—researchers simply collect health data, including liver scans, over one year. Th…

This study follows children with congenital or childhood myotonic dystrophy over time to see how their symptoms change. Researchers will test a range of assessments, from walking speed and hand strength to language and quality of life, to find the best ways to measure the disease…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This study explores whether 3D images and models made from routine prenatal scans can help families and surgeons better understand congenital diaphragmatic hernia (CDH), a condition where a hole in the diaphragm lets abdominal organs move into the chest. Researchers will use scan…

This study looks at whether levels of a protein called HMGB1 are different in people with LAMA2-related muscular dystrophy, a condition that causes severe muscle weakness. Researchers will measure HMGB1 in blood and muscle samples already collected from about 25 patients. The goa…

This study aims to understand how heart problems develop in people with Duchenne and Becker muscular dystrophy, as well as in carriers. Researchers will collect cardiac MRI scans and clinical data from 1,000 participants to build a registry. Using advanced image analysis and deep…

This study is testing a new leg exoskeleton designed by the NIH to help children and young adults with muscle weakness from conditions like cerebral palsy or spinal cord injury. Researchers want to see how well the device works in different real-world settings, like walking on a …

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 is testing whether a special ultrafast ultrasound can better measure muscle changes in boys and men with Duchenne or Becker muscular dystrophy. Researchers will compare muscle stiffness, fat content, and blood flow in 60 participants (patients and healthy volunteers) o…

This study follows children and adults worldwide who have a rare genetic muscle disease called TNNT1 myopathy. Researchers aim to document how the disease progresses over time, including survival and motor milestones. The goal is to identify reliable measures that can be used in …

This study is following 700 adults with myotonic dystrophy type 1 (DM1) over two years. Researchers are measuring walking speed, lung function, and muscle tissue changes to find reliable markers of disease progression. The goal is to improve future clinical trials by better under…

This study is for children up to 4 years old with congenital myotonic dystrophy type 1 (CDM). Researchers want to find better ways to measure how the disease affects motor skills and language, and to identify biological markers. The goal is to improve future clinical trials and c…

This study is testing whether a watch-like device worn on the ankle can measure how well toddlers with Duchenne muscular dystrophy (DMD) move during their daily activities. Researchers will ask 30 boys with DMD and 30 without (ages 1-3) to wear the device for three 28-day periods…

This study gathers medical information from people with MNGIE, a rare genetic disease that affects the nerves and digestive system. Researchers want to learn how the disease progresses and find better ways to measure it. Up to 50 patients worldwide can join, and no new treatments…

This study aims to learn why myotonic dystrophy type 1 affects children differently than adults, and why symptoms vary even within the same family. Researchers will observe 100 children (ages 0-17) through video calls and simple at-home activities, and analyze their genes from a …

This study looks at whether a longer fasting period before an upper endoscopy can lower the risk of stomach contents entering the lungs (aspiration) in people taking GLP-1 receptor agonists (like Ozempic or Wegovy). Researchers at Mayo Clinic will check the stomachs of 150 adults…

This early-stage study tests a brain implant called BrainGate in just 3 people with severe paralysis or speech loss from conditions like ALS or spinal cord injury. The goal is to see if the device is safe and can let users control a computer cursor or other tools by thought alone…

This study will collect electronic health records from up to 2500 people with Duchenne or Becker muscular dystrophy, including female carriers, across U.S. clinics. The data will be combined with patient-reported information to give researchers a fuller picture of the diseases. T…

This study looks at why teenagers who had surgery for a diaphragmatic hernia right after birth may find it hard to take part in sports and physical activities. Researchers will interview 20 teens and their parents, and use questionnaires to identify what helps or hinders their pa…

This study uses three wearable devices—a continuous glucose monitor, a heart monitor, and an activity tracker—to see if high blood sugar is linked to heart problems in people with Duchenne muscular dystrophy. Researchers will compare 80 participants with and without DMD. The goal…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is testing whether a smartphone app can accurately measure how people walk, without needing special markers or equipment. Researchers will compare the app's measurements to a standard motion-capture system in 30 volunteers—some with neuromuscular diseases like SMA or m…

This study follows 450 people with FSHD for at least 3 years to measure how the disease affects walking, arm use, breathing, and other daily activities. The goal is to improve patient care and help researchers design better clinical trials by understanding what changes in movemen…

This study is building a worldwide online registry for people with Duchenne or Becker muscular dystrophy, including female carriers. Participants share their health information to help researchers learn more about the disease and to match patients with clinical trials. The goal i…

This early study tests whether a brain implant can help people with severe paralysis from conditions like ALS, spinal cord injury, or stroke control devices using their thoughts. The implant records brain signals to decode text or synthesized speech. Only 3 adults will participat…

This study looks back at the last 10 years in Denmark to understand how many people use breathing machines at home through a tube in their windpipe. Researchers will track which diseases lead to this need and how many patients survive one year after starting. The goal is to spot …

This study looks at medical records of 1000 children with conditions like autism, epilepsy, and Down syndrome to find common biological patterns. Researchers want to understand what causes these disorders and how children respond to treatments. The goal is to improve diagnosis an…

This study is testing whether special insoles worn inside shoes can measure how well children with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) walk. About 106 participants, including healthy children, will wear the insoles during walking tests and in daily …

This study is testing whether a protein called titin, found in urine, can serve as a reliable marker of muscle injury in people with Duchenne or Becker muscular dystrophy. Researchers will measure titin levels before and after activities like walking down stairs, and track daily …

This study aims to understand how different types of changes in the DMD gene are linked to heart problems in boys and young men with Duchenne or Becker muscular dystrophy. Researchers will use heart tests and blood samples to look for early signs of heart issues. The study involv…

This study measures how hard children with conditions like neuromuscular disease, scoliosis, or heart problems work to breathe. Researchers use a thin tube placed through the nose into the esophagus to measure breathing muscle strength and effort. The goal is to better understand…

This study aims to understand why myotonic dystrophy type 1 affects people so differently. Researchers will remotely assess muscle strength, memory, and activity in 1,000 participants, and analyze their DNA from a blood sample. All activities are done from home using a mailed too…

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 follows 100 people in Spain with nemaline myopathy, a rare muscle disease, to see how their symptoms change over time. Researchers will use ultrasound, movement tests, and breathing checks to map the disease's natural course. The goal is to build a detailed patient dat…

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 looks at how exercise training changes muscle cells in people with mitochondrial myopathy, a rare disease that affects energy production. Researchers will compare a trained leg to an untrained leg in the same person, and also compare results with healthy volunteers. Th…

This study looks at whether quick, easy walking tests can replace the current complex and time-consuming exam used to track walking problems in people with facioscapulohumeral muscular dystrophy (FSH). Researchers will compare results from simple tests like the 6-minute walk with…

This study is testing different ways to measure muscle strength and movement in children with a rare muscle disease called FSHD. The goal is to find the best tests to use in future studies of new treatments. About 80 children aged 5 to 17 with confirmed FSHD will take part. The r…

This study is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…

This study uses a safe, radiation-free device called electrical impedance tomography (EIT) to take pictures of the lungs in infants, children, and young adults up to age 25. Researchers will compare images from patients with chronic lung or heart conditions to healthy controls to…

This study creates a registry for people with facioscapulohumeral muscular dystrophy (FSHD) to share their health experiences and data. Up to 5,000 participants in the U.S. will provide information through surveys to help researchers better understand the disease and develop impr…

This study follows 220 boys aged 4 to 9 with Duchenne muscular dystrophy (DMD) for up to 3 years. Researchers collect data on muscle strength, walking ability, heart and lung function, and quality of life to better understand how the disease progresses. The goal is to gather natu…

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…

This study aims to create a national registry for people with Myotonic Dystrophy Type 1 (DM1) in Spain. Researchers will collect clinical data, genetic information, and patient reports from up to 3,000 participants. The goal is to better understand the disease and identify people…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This observational study looks at saliva thickness and oral health in people with Oculopharyngeal Muscular Dystrophy (OPMD) compared to their household members. Researchers want to see if swallowing problems affect oral health and if saliva contains markers of the disease. No tre…

This study is looking for 75 adults with myotonic dystrophy (a muscle disease) and healthy volunteers to test new muscle imaging techniques. The goal is to find better ways to measure muscle changes over time, which could help future treatment studies. Participants will undergo M…

This study follows 300 people who carry a specific mitochondrial DNA mutation (m.3243A>G) that can cause symptoms like migraines, seizures, and hearing loss. Researchers will use brain scans, muscle tests, and cognitive assessments to track how the disease progresses over time. N…

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 collects DNA from up to 1,000 adults with progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), multiple system atrophy (MSA), or related conditions, plus their family members. Researchers will sequence participants' whole genomes to find genetic variants …

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 tracks 200 people with ultra-rare glycogen storage diseases (GSDs) like types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome, and Danon disease. Researchers will collect medical records and other data to see how these conditions progress over time. No treatments or dru…

This study uses special wearable devices to monitor how babies and children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) move at home. About 100 children will wear a sensor-filled jumpsuit or an ankle monitor to track their motor skills over up to 30 mo…

This study aims to identify genes that make a person more likely to develop congenital diaphragmatic hernia (CDH), a birth defect where the diaphragm doesn't form properly. Researchers will collect DNA samples from 3,000 people with CDH or a family history of it, along with their…

This study tests a brain implant that reads signals from the brain to help people who have lost the ability to speak fluently communicate through a computer just by trying to talk. It involves up to 2 participants with conditions like spinal cord injury or ALS. The main goal is t…

This study aims to learn how the binding of RNA with DNA (called R-loops) is linked to amyotrophic lateral sclerosis type 4 (ALS4) and other inherited neurological disorders. Researchers will observe up to 330 people aged 5 and older, including those with ALS4, related conditions…

This study aims to find less invasive ways to measure Duchenne muscular dystrophy activity. Researchers will collect urine and blood samples from 100 participants, including boys with Duchenne or Becker muscular dystrophy and healthy adults. They will look for RNA biomarkers that…

This study looks at the spinal fluid and brain activity of people with myotonic dystrophy type 1, a condition that affects muscles and thinking. Researchers want to find early signs of disease in the fluid that surrounds the brain. About 88 adults will take part, including some w…

This study aims to find less invasive ways to measure muscle disease activity in people with muscular dystrophies. Instead of painful muscle biopsies, researchers will use blood and urine samples along with painless ultrasound and electrical tests on the arms and legs. The goal i…

This study aims to find less invasive ways to measure disease activity in myotonic dystrophy by looking for RNA markers in blood and urine instead of taking muscle biopsies. Researchers will compare samples from 215 people with and without the condition to see if these markers ca…

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 …

This study looks at whether a special bed that gently moves your legs (passive exercise) can improve how the body uses oxygen in people with mitochondrial disease. Researchers will compare patients to healthy volunteers and also test the bed in children in the ICU. The goal is to…

This study will test if wearable devices like continuous glucose monitors and heart rate monitors can help detect early signs of heart problems in people with Duchenne muscular dystrophy (DMD). Ten participants will wear these devices at home over two years and have periodic hear…

This study uses MRI scans to track muscle damage and fat buildup in boys and men with Duchenne or Becker muscular dystrophy over 5-10 years. Researchers will compare these images with how well participants can walk and perform daily activities. The goal is to find better ways to …

This registry aims to connect people diagnosed with myotonic dystrophy (DM) or facioscapulohumeral muscular dystrophy (FSHD) with researchers. By joining, participants help scientists better understand these inherited muscle-weakening diseases and develop future treatments. The r…

This study measures two natural amino acids, arginine and ADMA, in newborns who had abdominal surgery within their first 5 days of life. Researchers want to see if the balance of these substances can help predict how quickly a baby recovers and whether complications arise. No ext…

This study follows 150 people with primary mitochondrial myopathy, a rare genetic muscle disease, to understand how the condition changes over time. Researchers will measure muscle function, biomarkers, and imaging to find signs of disease progression. The goal is to identify use…

This study aims to find the genes that cause inherited heart and muscle diseases like cardiomyopathy, arrhythmias, and muscular dystrophy. Researchers will collect blood samples from up to 2,000 patients and their families to look for genetic mutations. The goal is to better unde…

This study follows 34 adults with FSHD over one year to see how their breathing muscles change. Researchers will use ultrasound to measure diaphragm thickness and movement, along with standard breathing tests. The goal is to find out if ultrasound can detect respiratory problems …