Challenges
Experts share their insights in diagnosing and managing rare conditions
Pulmonary Arterial Hypertension: Current Treatment OptionsRoxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses the current tretment options of pulmonary arterial hypertension (PAH), a progressive condition that affects th …
Hereditary Sensory and Autonomic Neuropathy Type 1E (HASN1E) OverviewRachelle Dixon, President and co-founder’s of the HSAN1E Society discusses hereditary sensory and autonomic neuropathy type 1E (HSAN1E), a progressive disorder of the central and peripheral nervous systems.
Mucopolysaccharidosis Type I: Overview, Diagnosis Challenges, Treatments, and Emerging TherapiesHeather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type I (MPS I).
FDA Approves Clobazam Oral Film (Sympazan) for Lennox-Gastaut SyndromeThe US Food and Drug Administration (FDA) approved an oral film formulation of clobazam (Sympazan, Aquestive Therapeutics) for the adjunctive treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in patients 2 years and older.
The Challenges of Developing Drugs for Rare DiseasesRichard A. Basile,Co-Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the challenges of developing drugs for rare diseases.
The Current State of Rett SyndromeDaniel Glaze, Medical Director of the Blue Bird Circle Rett Center and a Professor in the Departments of Pediatrics and Neurology at Baylor College of Medicine in Houston, discusses the current state of Rett Syndrome.
The State of Rare DiseasesRichard A. Basile, Co Founder and CEO of BioPontis Alliance for Rare Diseases, discusses the state of rare diseases and the critical challenges facing it.
FDA Approval of Revcovi for Treating ADA-SCID PatientsThe FDA approved Revcovi (elapegademase-lvlr) injection in the United States, for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.
Using Genomics to Better Understand Rare DiseasesDaniel MacArthur, PhD is an Institute Member at the Broad Institute of MIT and Harvard, and co-lead of the Broad’s Center for Mendelian Genomics and Rare Genomes Project.
FDA Approves Hemlibra for Hemophilia A Without Factor VIII InhibitorsThe FDA expanded the approval of Hemlibra (emicizumab-kxwh) to include routine prophylaxis to prevent or reduce the frequency of bleeding episodes among individuals with hemophilia A without factor VIII inhibitors.