Hereditary hypophosphatemic rickets

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 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 offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This observational study follows 782 people with X-linked hypophosphatemia (XLH), a rare genetic bone disease, to understand how the condition changes over time. It also monitors the long-term safety and effectiveness of the drug burosumab. No new treatment is given; participants…

This study follows 226 people with X-linked hypophosphatemia (XLH) for up to 10 years. Researchers will collect data on height, walking ability, fractures, and overall health to better understand how the disease progresses and affects daily life. No new treatment is being tested;…