ChallengesExperts share their insights in diagnosing and managing rare conditions
- Usher Syndrome Overview
Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.
- A Novel Protein Therapy in Development for Achondroplasia (Short-Limbed Dwarfism)
Luca Santarelli, MD of Therachon discusses his company’s lead pipeline candidate, TA-46, a novel protein therapy in development for achondroplasia, the most common form of short-limbed dwarfism.
- FDA Allows Use of Kalydeco in Children Under Two Years Old
The U.S. Food and Drug Administration (FDA) has approved ivacaftor (KALYDECO) to be used in children with cystic fibrosis ages under the age of 2 years old who have at least 1 mutation in their cystic fibrosis transmembrane conductance regulator (CFTR) gene that is responsive to the drug.
- Patisiran: First RNAi Drug Approved to Treat Polyneuropathy Caused By hATTR
The Food and Drug Administration (FDA) approved Alnylam Pharmaceuticals’ patisiran (Onpattro) infusion for the treatment of polyneurotherapy caused by hereditary transthyretin-mediated amyloidosis (hATTR) in adult patients.
- Primary Biliary Cholangitis: Challenges of Diagnosing and Treating this Rare Disease
Gail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, discusses the challenges of diagnosing and treating primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.
- Innovation in Newborn Screening
Richard West, Founder and CEO of Baebies, discusses the public health program of newborn screening.
- FDA Approves First Treatment for Rare Adrenal Tumors
The Food and Drug Administration (FDA) approved Azedra (iobenguane I 131) injection for intravenous use for the treatment of adults and adolescents age 12 and older with rare tumors of the adrenal gland (pheochromocytoma or paraganglioma) that cannot be surgically removed (unresectable), have spread beyond the original tumor site and require systemic anticancer therapy.
- The Right to Try Act
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals discusses Right To Try, which is aimed at allowing terminally ill Americans to try medicines that have passed Phase 1 of the FDA approval process and remain in clinical trials but are not yet on pharmacy shelves.
- Fabry 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 Fabry disease, an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells.
- Research in Primary Biliary Cholangitis
Gail Cawkwell, MD, PhD, Senior Vice President, Medical Affairs at Intercept, discusses current research in primary biliary cholangitis (PBC), a rare liver disease that is caused by an autoimmune reaction.