Purine metabolism disease

This study follows about 50 people with a rare immune disorder called ADA-SCID who have received a gene therapy treatment called Strimvelis. The goal is to track their health for many years to see if the treatment remains safe and effective. Researchers will monitor for side effe…

This study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

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 study follows 70 people who previously received gene therapy for a rare immune disorder called ADA-SCID. Researchers want to see how well the treatment worked over time and check for any long-term side effects. No new treatment is given—just regular health checkups.