Dysostosis

This study tests whether custom 3D-printed titanium implants can safely and effectively rebuild facial bones in 30 adults with defects from injury, cancer surgery, or birth conditions. Each implant is designed from CT scans to match the patient's unique anatomy. Researchers will …

This study tests whether adding macitentan to the standard drug dapagliflozin improves outcomes for people with heart failure and a specific type of high blood pressure in the lungs. 64 adults in South Korea will take either the combo or dapagliflozin alone for 24 weeks. Research…

This study tests a new treatment called NVD003 for children with a rare condition where the shinbone doesn't heal properly (congenital pseudarthrosis of the tibia). The trial compares NVD003 to a standard bone graft taken from the hip. About 12 children will be enrolled to see if…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This study tests a new drug called OM-RCA-01, an antibody that blocks a protein called FGFR1 found on some cancer cells. About 58 adults with metastatic kidney, lung, prostate, breast, or head and neck cancers that express FGFR1 will receive the drug by IV every two weeks. The go…

This study tests a treatment called BonoFill-II for people with severe bone fractures that won't heal on their own. The treatment uses a patient's own cells to help grow new bone. The goal is to see if it is safe and can restore the bone and the ability to use the limb. About 40 …

This study is testing a new muscle training program and a muscle-controlled prosthetic arm for people who have lost an arm above the elbow. Participants will first receive a bone-anchored implant and nerve surgery to improve muscle signals. Then they will use a myoelectric prosth…

This study tests an experimental drug called E7090 in people with advanced or returning solid tumors that have a specific change in the FGFR gene. About 75 participants will receive the drug to see if it can shrink tumors and control the disease. The goal is to offer a new option…

This study is testing whether new blood tests can accurately diagnose the cause of memory loss or dementia, potentially replacing the need for a spinal tap. Researchers will compare blood test results with standard spinal fluid tests in 1,200 people at a memory clinic. If success…

This study aims to make it easier for family doctors to detect early signs of Alzheimer's and other dementias. Researchers will test 1,200 adults with memory or thinking problems using blood tests and brain scans. The goal is to see if these tools can accurately identify who has …

This study tests the Point Mini, a mechanical finger prosthetic, in 14 children aged 3-17 with partial hand differences from amputation or birth. Each child uses their current device for one month, then the Point Mini for two months, to compare hand function, ease of use, and how…

This study tests whether IGC-AD1, a THC-based oral medication, can safely reduce agitation in people with mild to severe Alzheimer's dementia. About 164 participants will receive either the drug or a placebo twice daily for several weeks. Researchers will measure changes in agita…

This study looks at whether doing breathing exercises before orthopedic surgery (like knee, hip, or fracture repair) can help your lungs work better after the operation. It involves 36 adults who have used tobacco and are at risk for breathing problems after surgery. Participants…

This study tests a 3D-printed adapter that snaps onto an Xbox controller, allowing children aged 7 to 17 with a one-sided upper limb difference to use almost all buttons with one hand. Researchers want to see if it improves gaming performance and enjoyment. Twenty participants wi…

This study looks at whether giving less IV fluid to people with sickle cell disease during a painful crisis works just as well as giving more fluid, while possibly causing fewer side effects like fluid overload. About 394 adults with sickle cell disease will be randomly assigned …

This study tests whether taking melatonin, a natural sleep aid, can help teens aged 12-18 sleep better and recover faster after major musculoskeletal surgery (like scoliosis or hip surgery). About 45 teens will receive either a fast-dissolve melatonin pill or a placebo daily. The…

This study tests whether a program of exercise and ergonomics training can reduce muscle and joint pain in teachers. About 80 teachers who have had pain for at least three months will be randomly assigned to receive the training or not. Researchers will measure changes in pain, d…

This study tests a web-based app called IAMABLE that provides evidence-based rehabilitation strategies for people with chronic conditions like heart disease, arthritis, or neurological disorders. Fifty adults aged 45 to 75 will use the app for 4 months to set goals and learn abou…

This study looks at whether a prosthetic knee with a built-in computer (microprocessor-controlled) can help people with above-knee amputations have fewer fall-related problems, walk faster, and feel better overall. About 100 adults who already use a basic prosthetic knee will eit…

This study tests whether extra support for case managers helps veterans leaving the military better manage pain and reduce risky substance use. About 1800 veterans will take part. The program focuses on non-drug pain treatments and counseling.

This study aims to learn more about rare skeletal disorders by collecting medical records, blood samples, and genetic data from 100 participants. People with known or suspected bone conditions, as well as their healthy family members, can join either remotely or in person. The go…

This study looks at how people who have lost an arm or were born without one experience phantom limb sensations—like feeling their missing hand move. Researchers will interview participants and map these sensations to help design prosthetics that are easier to control and feel mo…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study looks at whether a simple, non-invasive fingertip sensor (called pleth variability index, or PVI) can help doctors track blood pressure and fluid needs during skull surgery in children aged 0 to 6 years with craniosynostosis. The researchers will compare PVI readings w…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study translates and tests several health questionnaires—covering pain, arm and leg function, mood, and daily activities—for use with Albanian-speaking people. Researchers will check if the translated versions are reliable and accurate by giving them to about 300 participant…

This study is creating a collection of blood, urine, and leftover surgical tissue from 350 patients with bone, calcium, and growth plate disorders. The goal is to better understand how these diseases progress and to find markers that could predict outcomes. No new treatments are …

This study tests a new tool called the PRISM Dashboard, which gives physiotherapists feedback on how their decisions compare to their peers. The goal is to see if this feedback helps reduce differences in care for people with muscle and joint pain. About 60 physiotherapists and t…

This study looks for better ways to monitor kidney transplant recipients for signs of rejection or long-term damage. Researchers will collect blood, urine, and tissue samples from 1000 patients during routine biopsies to find early warning markers. The goal is to replace less sen…

This study looks at bone cells from children having surgery for craniosynostosis (early skull bone fusion). Researchers want to see how burosumab and vitamin D directly affect these cells, especially in children with a rare bone disease called hypophosphatemic rickets. The goal i…

This study follows 252 adults with muscle, bone, or joint problems (like arthritis, back pain, or after surgery) to see how well they do their prescribed home exercises. Researchers will track who sticks with the program and why, looking at factors like pain, mood, and support. T…

This study tests whether using a virtual reality (VR) headset during shoulder exercises helps patients feel more engaged and motivated. Fifty adults with shoulder problems will do rehab exercises in a VR environment and then answer questionnaires about how easy and immersive the …

This study is creating a large database of genetic and physical information from 3100 children with craniofacial abnormalities, such as craniosynostosis and Pierre Robin sequence. Researchers will analyze this data to understand why these conditions vary so much from person to pe…

This study looks at eye problems in people with craniosynostosis, a condition where skull bones close too early. Researchers will check for issues like crossed eyes, lazy eye, and pressure inside the head. The goal is to better understand these eye problems to help improve care.

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 secure national database for muscle and joint (musculoskeletal) conditions by collecting routine data from community clinics and GP practices. About 22,000 adults will have their information anonymously gathered to help develop a dashboard that tracks …

This study watches 2000 people having hip or knee replacement surgery to see how long spinal anaesthesia lasts. The goal is to learn how the amount of anaesthetic affects timing, helping doctors decide if patients can safely go home the same day. No new treatments are tested—just…

This study looks at how changing the heel cushion on an ankle-foot brace (AFO) affects walking in people who use one daily. Forty adults with leg injuries or nerve problems will try four different heel wedges—tall or short, soft or firm—while walking at controlled speeds. Researc…

This study looks at how 3D computer simulation and printing can help surgeons better plan and perform bone correction surgeries. Researchers will compare the planned corrections to the actual results in 100 children and young adults with rare bone deformities. The goal is to make…

This study follows 4,000 children who receive orthopedic implants (like rods or screws) during standard care for bone fractures, deformities, or hip problems. Researchers will track how long the implants last, any complications, and how well they work over time. The goal is to ga…

This study is building a registry of people with rare bone diseases (skeletal dysplasias) in Italy. Researchers will collect medical history, genetic data, and treatment details over time to better understand how these conditions progress. No experimental treatments are given; th…

This study follows 144 adults with muscle or bone problems who are already scheduled to receive treatment with Chattanooga Intelect devices (like TENS or ultrasound). Researchers will measure pain, muscle strength, and movement range to confirm the devices are safe and work as ex…

This study looks at how the brain changes in people born without a hand or upper limb. Researchers will use brain scans and simple tasks to compare their brain activity and structure to those with both arms. The goal is to understand how early life shapes the brain's ability to a…

This observational study tests a new device (eMyosound LYRA) that uses sound waves to measure stiffness in the heart and liver. Researchers will compare 150 people—some with heart failure, some with a rare heart condition called ATTR-CM, and some healthy volunteers. The goal is t…

This study looks at 30 infants (3-8 months old) having surgery for craniosynostosis, a condition where skull bones fuse too early. Researchers want to see if a new monitoring method (PRAM) can better track blood pressure and fluid loss than standard monitors. The goal is to impro…

This study looks at how using a 3D-printed prosthetic hand changes brain activity in children born with missing fingers, hands, or arms. Researchers will use a brain imaging technique called fNIRS to measure brain responses while children perform tasks with the prosthesis. The go…

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 aims to find the best way to place sensors on a prosthetic socket to improve how well people with below-elbow amputations can control their powered arm. Researchers will compare different numbers of sensors (4, 8, or up to 16) and whether targeting specific muscles hel…

This study tests whether powered prosthetic knees help people with above-knee amputations walk more and feel more confident than standard non-powered knees. Twenty-six adults who already use a mechanical knee will try both types at home for three months each. Researchers will tra…