Iron metabolism disease

This phase 2 trial tests an experimental drug called vamifeport in 84 adults with HFE-related hereditary hemochromatosis, a genetic condition causing iron buildup. The drug aims to reduce liver iron levels, potentially offering an alternative to regular blood removal. Participant…

This early-stage trial tests an oral drug called BBI-001 for hereditary hemochromatosis, a condition where the body stores too much iron. The study has two parts: one checks safety in healthy volunteers, and the other measures how well the drug controls iron levels in patients. A…

This study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

This study follows 500 adults who received a stem cell transplant at least 10 years ago to see if iron buildup in the body raises the risk of liver problems. Researchers will use blood tests and a special liver scan (FibroScan) to check for damage. The goal is to understand wheth…

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…