Hypophosphatemic rickets

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 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 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…

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…