Rickets

This study tests a new drug called INZ-701 in up to 16 infants (up to 1 year old) with rare genetic conditions (ENPP1 or ABCC6 deficiency) that cause dangerous calcium buildup in arteries and other problems. The main goal is to check the drug's safety and how the body handles it,…

This study tests a new medicine called INZ-701 in babies up to 1 year old who have a rare genetic condition (ENPP1 deficiency) that causes severe hardening of the arteries and bone problems. The goal is to see if the drug can raise a key substance in the blood, improve survival, …

This study looks at whether lowering high parathyroid hormone levels can help protect bone density in people with advanced chronic kidney disease. About 70 adults aged 50 and older with kidney failure not on dialysis will be assigned to different treatment targets for their hormo…

This study looks at three different ways to take vitamin D in people with low levels. Participants will be randomly assigned to one of three groups: a monthly pill, a twice-monthly pill, or daily drops. After one month, researchers will measure vitamin D in the blood and check bo…

This study tests a new drug called KK8123 for adults with X-linked hypophosphatemia (XLH), a rare genetic condition that causes low phosphate levels and bone problems. The trial has two parts: first, finding the right dose, then checking safety and how well it works over time. Ab…

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 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 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 gives 200 athletes either high-dose vitamin D3 (4,000 IU daily) or a placebo for 4 to 8 weeks. Researchers measure changes in vitamin D levels, hormones, muscle function, cognitive performance, and body composition. The goal is to see if extra vitamin D improves athlet…

This study is testing whether a blood test that looks at tiny genetic molecules called microRNAs can accurately detect bone problems in people with chronic kidney disease. Currently, doctors rely on a bone biopsy, which is invasive and not practical for most patients. The researc…

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 at how long-term phosphate therapy affects the kidneys, blood vessels, and heart in people with two rare bone disorders: X-linked hypophosphatemia (XLH) and hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Researchers will measure hormone levels an…

This study tests a new, non-invasive method using calcium isotope ratios in blood to see if the drug cinacalcet improves bone calcium balance in children aged 3-17 who are on dialysis and have secondary hyperparathyroidism. Researchers will measure these ratios before and three m…

XLH is a rare genetic condition that causes low phosphate levels, leading to weak bones and pain. Burosumab is a standard treatment, but the best starting dose is still unclear. This study will review the medical records of 120 children across England to see if a lower dose (unde…

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 will follow 1,000 adults who are taking vitamin D supplements for low vitamin D levels. Researchers will collect health data over 10 years to see how vitamin D use relates to conditions like heart disease, diabetes, cancer, and osteoporosis. The goal is to learn more a…

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 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 is testing how different levels of dietary phosphorus affect people with moderate chronic kidney disease (stages 3-4) compared to healthy volunteers. Participants will follow three different phosphorus diets over 21 days, and researchers will measure blood markers to f…

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 aims to understand the link between calcium and phosphorus from food and the stage of kidney disease in patients with advanced chronic kidney disease (stage 4-5). Researchers will compare two methods of tracking diet: taking photos of meals and weighing food. The goal …

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 taking vitamin D3 and K2 supplements for 90 days changes blood levels and the community of bacteria in the gut (the microbiome) in healthcare workers with low vitamin D. About 96 participants will take either a vitamin D3, K2, both, or a placebo pill. Rese…

This study is looking at 100 children aged 3 to 15 who have had a low-energy fracture (like a fall from standing height). Researchers want to see if vitamin D levels, bone markers, and weight are linked to fracture risk. They will compare children with fractures to those without.…