by Peter Ciszewski | Feb 21, 2022
Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children’s Hospital of Orange County, gives an overview of the treatment landscape for mucopolysaccharidosis type I (MPS I). MPS I is an...
by James Radke, PhD | Feb 18, 2022
The U.S. Food and Drug Administration (FDA) has approved mitapivat (Pyrukynd) for the treatment of hemolytic anemia in adults with pyruvate kinase (PK) deficiency. PK deficiency is a rare blood disorder caused by an inherited mutation in the PKLR gene. It is...
by Peter Ciszewski | Feb 18, 2022
Kathie Bishop, PhD, Chief Scientific Officer at Acadia Pharmaceuticals, provides an overview of Rett syndrome. As Dr. Bishop explains, Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have...
by CheckRare Staff | Feb 17, 2022
Jeffrey A. Zonder, MD, Hematologist-Oncologist from the Barbara Ann Karmanos Cancer Institute in Detroit, Michigan, describes the treatment landscape for patients with relapsed or refractory multiple myeloma. Multiple myeloma is a rare blood cancer associated...
by Peter Ciszewski | Feb 17, 2022
Caroline Hastings, MD, Hematologist-Oncologist and Neuro-Oncologist from the UCSF Benioff Children’s Hospital, explains why finding a treatment for Niemann-Pick Disease Type C (NPC) has been difficult. NPC is a disabling neurogenetic disorder that has...
