Abnormal mineralization disorder

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 tests whether a new type of PET scan using a radioactive tracer called 18F-FCH can more accurately locate overactive parathyroid glands or tumors before surgery. About 193 adults scheduled for parathyroid removal will receive both the new scans and a standard 4D-CT sca…

This study uses a special MRI technique to measure energy molecules (ATP and phosphate) in the leg muscles of people with phosphate diabetes, a condition that causes bone pain and muscle fatigue. By comparing measurements at rest and during exercise, researchers hope to uncover t…

This study is a worldwide registry that collects health information from people of all ages with X-Linked Hypophosphatemia (XLH), a rare genetic condition that affects bone growth and strength. Researchers will track how the disease progresses, what treatments patients receive, a…

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 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…

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…