ChallengesExperts share their insights in diagnosing and managing rare conditions
- Biallelic RPE65 Mutation-Associated Retinal Dystrophy
Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses biallelic RPE65 mutation-associated retinal dystrophy, a rare retinal disorder.
- Fragile X Syndrome Overview and the CONNECT-FX Clinical Trial
Armando Anido, Chief Executive Officer at Zynerba Pharmaceuticals discusses Fragile X syndrome, a genetic condition involving changes in part of the X chromosome.
- Luxturna: Gene Therapy for Biallelic RPE65 Mutation-Associated Retinal Dystrophy
Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses his company’s first approved product, Luxturna — a one-time gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
- Acute Hepatic Porphyria: Overview and Emerging Therapies
Pushkal Garg, MD, Chief Medical Officer at Alnylam discusses Acute Hepatic Porphyria (AHPs) and givosiran, an investigational, subcutaneously administered RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) in development for the treatment of AHP.
- Management of Hematologic Diseases With Cellular and Immunotherapies
Mohamad Mohty, MD, discusses the management of hematologic diseases with cellular and immune therapies such as Chimeric antigen receptor (CAR) T cells, which have recently emerged as a novel therapeutic approach, yielding complete responses even in heavily pretreated patients with leukemia, lymphoma, and myeloma.
- FDA Approves Cablivi for Acquired Thrombotic Thrombocytopenic Purpura
The U.S. Food and Drug Administration (FDA) approved Cablivi (caplacizumab-yhdp) injection, the first therapy specifically indicated, in combination with plasma exchange and immunosuppressive therapy, for the treatment of adult patients with acquired thrombotic thrombocytopenic purpura (aTTP), a rare and life-threatening disorder that causes blood clotting.
- Using Genomics to Better Understand Rare Diseases
Daniel MacArthur, PhD is an Institute Member at the Broad Institute of MIT and Harvard, and co-lead of the Broad’s Center for Mendelian Genomics and Rare Genomes Project.
- Hereditary ATTR Amyloidosis Overview
Pushkal Garg, MD, Chief Medical Officer at Alnylam discusses hereditary ATTR (hATTR) amyloidosis, a rare condition that affects an estimated 50,000 people worldwide.
- FDA Approves Imbruvica-Gazyva Combo for Treatment-Naive Chronic Lymphocytic Leukemia
The FDA approved ibrutinib for use in combination with obinutuzumab for treatment-naive patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma. This is the first nonchemotherapy regimen indicated for this patient population.
- Living with Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Ch …