ChallengesExperts share their insights in diagnosing and managing rare conditions
The U.S. Food and Drug Administration (FDA) has approved Sevenfact [coagulation factor VIIa (recombinant)-jncw] to treat and control of bleeding episodes that occur in persons 12 years of age and older with hemophilia A or B with inhibitors (neutralizing antibodies)....
Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, discusses the etiology and diagnosis of WHIM syndrome, a rare immunodeficiency...
Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions.
The US Food and Drug Administration (FDA) has issued a guidance for industry, investigators, and institutional review boards in regard to how to conduct clinical trials during the current coronavirus (COVID-19) pandemic.
Dwight Koeberl, MD, PhD, of Duke University School of Medicine provides an overview of Pompe disease.
Geoff MacKay, president and CEO of Avrobio, a gene therapy company focused on lysosomal diseases talks about the FDA’s guidances they have published to help industry and researchers develop gene therapies.
David Kronn, MD, Associate Professor of Pediatrics at New York Medical College describes the latest results from the mini-COMET phase II study testing avalglucosidase alfa to treat Pompe disease.
Barbara Burton, MD of Lurie Children’s Hospital of Chicago explains Morquio syndrome type A, a rare lysosomal storage disorder.
Philip M. Murphy, MD, Chief, Molecular Signaling Section, Laboratory of Molecular Immunology; Chief, Laboratory of Molecular Immunology, National Institute of Allergy and Infection, provides an overview of WHIM syndrome, a rare immunodeficiency disorder.
Gallia Levy, MD, PhD, Associate Group Medical Director at Genentech, explains treatment options for hemophilia A.