ChallengesExperts share their insights in diagnosing and managing rare conditions
- 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.
- The Success of the Orphan Drug Act
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals discusses the success of the Orphan Drug Act (ODA).
- Preliminary Results from Phase 2 Trial in Patients with Charcot-Marie-Tooth Disease Show Promise
There seems to be some good news on the horizon for individuals with Charcot-Marie-Tooth (CMT) disease. Acceleron Pharma announced positive preliminary results from Part 1 of the Phase 2 clinical trial with ACE-083 in patients with CMT disease at the Peripheral Nerve Society (PNS) annual meeting.
- Considering Rare Diseases for Challenging Cases
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses how physicians need to consider rare diseases for some of their more challenging diagnositic cases.
- FDA Approves Tibsovo, First IDH1 Inhibitor for Acute Myeloid Leukemia
The U.S. Food and Drug Administration (FDA) approved Tibsovo (ivosidenib) tablets for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) who have a specific genetic mutation.
- Challenges of the Health Care System Supporting Innovative Drugs
Chris Garabedian discusses the challenges of our health care syste3m supporting the many emerging and innovative therapies entering the market.