Congenital myopathy

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 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 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 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 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 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 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 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 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…