Challenges
Experts share their insights in diagnosing and managing rare conditions
Hemophagocytic Lymphohistiocytosis: Disease Overview and Emerging Treatment Optionsen Walt, Vice President, Head of Medical Affairs, SOBI in North America, discusses Hemophagocytic lymphohistiocytosis (HLH), a rare condition in which the body makes too many activated immune cells (macrophages and lymphocytes).
FDA Approves Subcutaneous Actemra for Systemic Juvenile Idiopathic ArthritisThe US Food and Drug Administration (FDA) approved a subcutaneous formulation of tocilizumab (Actemra, Genentech) for the treatment of active systemic juvenile idiopathic arthritis in patients 2 years of age and older.
Dr. David Birch Explains X-Linked Retinoschisis (XLRS)David Birch, PhD, Scientific Director at the Retina Foundation discusses X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneratio …
FDA Approves Tiglutik for the Treatment of Amyotrophic Lateral SclerosisThe US Food and Drug Administration (FDA) approved Tiglutik (riluzole) oral suspension for the treatment of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease.
The Challenges of Diagnosing Primary Biliary CholangitisGail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, provides an overview of primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
Pompe Disease: Overview, Diagnosis Challenges, Treatments, and Emerging TherapiesHeather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Pompe disease, an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells.
Jeremy Levin: Challenges of Working with Rare DiseasesJeremy Levin, Chairman and Chief Executive Officer of Ovid Therapeutics, discusses the challenges of a small biotech company working with rare diseases, especially rare neurological disorders.
Albiero Pharma Overview and Focus on Rare Pediatric Liver DiseasesRon Cooper, President and CEO of Albireo, discusses his company and lead product. Albireo is a clinical-stage biopharmaceutical company focused on the development of novel bile acid modulators to treat orphan pediatric liver diseases and other liver or gastrointestinal diseases and disorders.
Physician and Patient Resources for Primary Biliary CholangitisGail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, provides discusses some of the physician and patient resources regarding primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
FDA Approves New Prophylactic Drug for Rare Hereditary AngioedemaThe U.S. Food and Drug Administration (FDA) approved lanadelumab (Takhzyro), the first monoclonal antibody to help prevent attacks of hereditary angioedema (HAE) in patients aged 12 years and older with types I and II of the disease. HAE is a rare and …