Rare Diseases
The historic utilization of gene editing CRISPR technology to treat a baby boy with a rare, incurable condition known as carbamoyl phosphate synthetase 1 (CPS1) deficiency represents a turning point in medicine, opening the possibility of personalized treatments in all parts of the body. Read More ›
Officials with the FDA have approved chenodiol (Ctexli; Mirum) for the treatment of cerebrotendinous xanthomatosis (CTX) in adults, making it the first FDA-approved therapy to address this rare lipid storage disease. Read More ›
Vanzacaftor/tezacaftor/deutivacaftor (Alyftrek, Vertex Pharmaceuticals), a once-daily next-in-class triple combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator, has been approved for the treatment of cystic fibrosis (CF) in people aged ≥6 years who have at least 1 F508del mutation or another mutation in a responsive CFTR gene. Read More ›
On December 18, 2024, officials with the FDA approved remestemcel-L-rknd (Ryoncil, Mesoblast, Inc.), the first allogeneic bone marrow–derived mesenchymal stromal cell (MSC) therapy, for steroid-refractory acute graft-versus-host-disease (SR-aGVHD) in pediatric patients aged ≥2 months. Read More ›
Olezarsen (Tryngolza; Ionis) has been approved by the FDA for the treatment of familial chylomicronemia syndrome (FCS), a rare, inherited disorder characterized by severe hypertriglyceridemia. Read More ›
The FDA has approved the expanded use of elexacaftor/tezacaftor/ivacaftor and ivacaftor (Trikafta; Vertex) for the treatment of people with cystic fibrosis (CF) ≥2 who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene or a mutation that is responsive to the treatment based on clinical and/or in vitro data. Read More ›