Challenges
Experts share their insights in diagnosing and managing rare conditions
Orphan Drug Development, Pricing, and Access
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.
Thyroid Eye Disease: Incidence and Treatment
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.
Ehlers-Danlos Syndrome: “It Hit Like a Tornado”
Patricia Weltin of Beyond the Diagnosis talks about Elhers-Danlos syndrome, a rare disease that afflicts two of her daughters.
FDA Reviewing Drug Application for Neuromyelitis Optica
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).
Thyroid Eye Disease: Diagnosis and Symptoms
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.
FDA Approves Landmark New Therapy for Cystic Fibrosis
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.
FDA Approves New Complement Inhibitor for Patients With aHUS
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).
Hemophilia Explained
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.
FDA Approves Scenesse for Erythropoietic Protoporphyria Patients
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).
Challenges Facing Rare Disease Clinical Trials
Nick Kenny, PhD, Chief Scientific Officer at Syneos Health talks about the challenges in developing clinical trials for rare conditions.