ChallengesExperts share their insights in diagnosing and managing rare conditions
- Current State of Duchenne Muscular Dystrophy and Future Considerations
Jennifer McNary, Rare Disease Advocate, explains why there is so much interest in Duchenne muscular dystrophy and some of the future considerations for this rare diease.
- Vascular Ehlers-Danlos Syndrome (vEDS)
William T. Andrews, MD, FACP, Chief Medical Officer of Acer Therapeutics discusses his company’s focus on Vascular Ehlers-Danlos Syndrome (vEDS), an inherited connective tissue disorder that is caused by defects in a protein called collagen.
- New Treatment Option for Primary Hemophagocytic Lymphohistiocytosis
Michael Jordan, MD, a physician-scientist in the division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center HLH Center of Excellence, discusses primary hemophagocytic lymphohistiocytosis (HLH) and the phase 2/3 clinical trial presented at the American Society of Hematology (ASH) Annual Meeting in San Diego.
- American Society of Hematology Conference Coverage
This year’s American Society of Hematology (ASH) 2018 Annual Meeting was held on December 1-4 in San Diego, California. Physicians, researchers, and health care professionals learned about the latest advances in the treatment of blood cancers and blood …
- FDA Approves First Treatment for Lambert-Eaton Myasthenic Syndrome
Some long-awaited good news arrived for the Lambert-Eaton Myasthenic syndrome (LEMS) community this week as the U.S. Food and Drug Administration approved Firdapse (amifampridine) tablets for the treatment of LEMS in adults.
- FDA Approves Drug for Solid Tumors and NTRK Gene Fusions
The U.S. Food and Drug Administration granted accelerated approval to Vitrakvi (larotrectinib, Loxo Oncology and Bayer) for the treatment of patients with solid tumors who have an NTRK gene fusion without a known resistance mutation.
- Krabbe Disease
Melissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses Krabbe disease (also called globoid cell leukodystrophy), a degenerative disorder that affects the nervous system.
- FDA Approves Venetoclax for Older Acute Myeloid Leukemia Patients
The FDA granted accelerated approval to Venetoclax (Venclexta) in combination with azacitidine, decitabine or low-dose cytarabine to treat newly diagnosed patients with acute myeloid leukemia (AML) aged 75 years or older.
- Leber’s Congenital Amaurosis Overview
Daniel de Boer, Founder and CEO of ProQR, discussuses Leber’s congenital amaurosis (LCA), the most common genetic cause of childhood blindness.
- FDA Approves Gamifant for Primary Haemophagocytic Lymphohistiocytosis
The U.S. Food and Drug Administration (FDA) approved Gamifant (emapalumab-lzsg), an interferon gamma (IFNγ) blocking antibody for the treatment of patients with primary haemophagocytic lymphohistiocytosis (HLH) with refractory, recurrent or progressive disease or intolerance to conventional HLH therapy.