Renal tubular transport disease

This study follows 9 people with Fanconi Anemia who already received a gene therapy that adds a working FANCA gene to their blood stem cells. Researchers will check their health and blood counts for 15 years to see if the treatment remains safe and keeps working. No new treatment…

This study was designed to check the long-term safety and effectiveness of a drug called ADV7103 in people with primary distal renal tubular acidosis, a rare kidney problem that leads to too much acid in the blood. It planned to include people who had been in an earlier study, as…

This phase 2 trial tests a gene therapy called RP-L102 for children with Fanconi anemia subtype A, a rare genetic disorder that leads to bone marrow failure. Doctors take the child's own blood stem cells, fix the faulty gene in a lab, and infuse the corrected cells back. The goal…

This pilot study tests a new diet for people on hemodialysis who have high potassium levels. Instead of cutting out all high-potassium foods like fruits and vegetables, the diet focuses on avoiding foods with potassium that is easily absorbed, such as additives, processed meats, …

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…