ChallengesExperts share their insights in diagnosing and managing rare conditions
Dennis Jackman, Senior Vice President, Public Affairs at CSL Behring discusses rare disease drug pricing, patient involvement in the drug development process, and drug access.
Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine talks about the incidence and treatment options for thyroid eye disease due to Graves’ disease.
Patricia Weltin of Beyond the Diagnosis talks about Elhers-Danlos syndrome, a rare disease that afflicts two of her daughters.
The U.S. Food and Drug Administration (FDA) has accepted Genentech’s Biologics License Application (BLA) for satralizumab to treat of adults and adolescents with neuromyelitis optica spectrum disorder (NMOSD).
Gary Joseph Lelli, MD, of the Department of Ophthalmology at Weill Cornell Medicine talks about thyroid eye disease due to Graves’ disease, including which clinicians are most likely to diagnose this condition and the most common symptoms in this highly variable rare condition.
The U.S. Food and Drug Administration has approved Vertex’s Trikafta (elexacaftor/ tezacaftor/ ivacaftor and ivacaftor) for the treating persons, 12 years and older, with cystic fibrosis who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The U.S. Food and Drug Adminstration (FDA) has approved Ultomiris (ravulizumab-cwvz) to treat adults and children (> 1 month of age) with atypical hemolytic uremic syndrome (aHUS).
Joe Pugliese of the Hemophilia Alliance, a not-for-profit organization of federally funded hemophilia treatment centers that is working to ensure its member have the expertise, resources and public support to sustain their integrated clinical and pharmacy services for persons with hemophilia and other bleeding disorders.
The U.S. Food and Drug Administration (FDA) granted approval to Scenesse (afamelanotide) to increase pain-free light exposure in adult patients with a history of phototoxic reactions (damage to skin) from erythropoietic protoporphyria (EPP).
Nick Kenny, PhD, Chief Scientific Officer at Syneos Health talks about the challenges in developing clinical trials for rare conditions.