Congenital muscular dystrophy with intellectual disability and severe epilepsy

This study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…

This trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…

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 will test blood samples from 450 people aged 6 to 60 with inherited neuromuscular diseases to see if they have antibodies that could block gene therapy viruses (AAVs). The goal is to understand how common these antibodies are and which patients might be good candidates…

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 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…

This 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …