Rare Disease Focus: Congenital and Genetic Conditions ++++++

FDA NEWS 2025 Orphan Drugs: PDUFA Dates and FDA Approvals https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/ Rare diseases and orphan drugs are at the forefront of novel development and groundbreaking research. Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs. FDA Approves Selumetinib to Treat Patients With Neurofibromatosis Type 1 https://checkrare.com/fda-approves-selumetinib-to-treat-patients-with-neurofibromatosis-type-1/ The U.S. FDA has approved Koselugo (selumetinib) for the treatment of adult patients with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable plexiform neurofibromas (PN). Updates to Prescribing Information for Elevidys in Treatment of Duchenne Muscular Dystrophy https://checkrare.com/updates-to-prescribing-information-for-elevidys-in-treatment-of-duchenne-muscular-dystrophy/ The U.S. FDA has updated the prescribing information for Elevidys (delandistrogene moxeparvovec) for Duchenne muscular dystrophy (DMD). Approval of Treatment for Patients With Familial Chylomicronemia Syndrome (FCS) https://checkrare.com/approval-of-treatment-for-patients-with-familial-chylomicronemia-syndrome-fcs/ The U.S. FDA has approved Redemplo (plozasiran) for the treatment of adult patients with familial chylomicronemia syndrome (FCS). FDA Approves First Treatment for Thymidine Kinase 2 Deficiency https://checkrare.com/fda-approves-first-treatment-for-thymidine-kinase-2-deficiency/ The U.S. FDA has approved Kygevvi for the treatment of adults and pediatric patients, with an age of symptom onset on or before 12 years, with thymidine kinase 2 deficiency (TK2d). FDA Approves Elamipretide for Patients With Barth Syndrome https://checkrare.com/fda-approves-elamipretide-for-patients-with-barth-syndrome/ The U.S. Food and Drug Administration (FDA) has granted accelerated approval to Forzinity (elamipretide HCI) for the treatment of patients with Barth syndrome.