ChallengesExperts share their insights in diagnosing and managing rare conditions
- FDA Approves Hemlibra for Hemophilia A Without Factor VIII Inhibitors
The 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.
- Translational Science at the NIH: Moving Beyond “One Disease at a Time”
Philip John Brooks, PhD, Program Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health (NIH) discusses his work in rare diseases at the NIH.
- Cystic Fibrosis and Pulmonary Exacerbations
Greg Duncan, CEO of Celtaxsys discussed cystic fibrosis (CF) and the role of pulmonary exacerbations.
- FDA Approves Antibacterial Drug for Rare Lung Disease
The U.S. Food and Drug Administration approved a new drug, Arikayce (amikacin liposome inhalation suspension), for the treatment of lung disease caused by a group of bacteria, Mycobacterium avium complex (MAC) in a limited population of patients with the disease who do not respond to conventional treatment (refractory disease).
- The Link Between Lipds and the Origin of Myelomas
Dr. Pramod Mistry discusses the link between lipids and the origin of myelomas, a type of cancer affecting plasma cells. Multiple myeloma is a cancer involving the growth of plasma cells, which are immune cells that make antibodies to fight infection.
- Hemophagocytic Lymphohistiocytosis: Disease Overview and Emerging Treatment Options
en 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 Arthritis
The 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 Sclerosis
The 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.
- Pompe Disease: Overview, Diagnosis Challenges, Treatments, and Emerging Therapies
Heather 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.