Cockayne syndrome

This study tests a new drug called AZD4956, alone or with other cancer drugs, in people with advanced or spreading solid tumors that have a specific DNA repair defect (HRR deficiency). The main goals are to check safety, find the best dose, and see if the drug can shrink tumors. …

This study is for people with rare DNA repair disorders like Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy. Researchers will watch how symptoms like movement and balance change over time. No treatments are given—the goal is to better understand these conditions…

This study watches 150 adults with heart valve problems who are getting a procedure (TAVI or M-TEER) to see if it helps their sleep-disordered breathing. Participants take a sleep test before the procedure and again 6 months later. The goal is to learn how fixing heart valves mig…

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…