by Madaline Spencer | Mar 13, 2025
Caroline Hastings, MD, Professor of Pediatrics at UCSF Benioff Children’s Hospital Oakland, discusses an open-label study of patients under 3 years of age with Niemann-Pick disease type C (NPC) being treated with Trappsol Cyclo (HPβCD). NPC is a...
by Madaline Spencer | Mar 13, 2025
The U.S. Food and Drug Administration has approved Encelto (revakinagene taroretcel-lwey) for the treatment of macular telangiectasia type 2 (MacTel). MacTel is a rare neurodegenerative disease characterized by localized retinal degeneration. Patients with this...
by Madaline Spencer | Mar 12, 2025
Tanya Collin-Histed, Chief Executive Officer of the International Gaucher Alliance (IGA), discusses a global collaborative effort for Gaucher disease. Gaucher disease is a rare inherited metabolic disorder that leads to the harmful accumulation of the...
by Madaline Spencer | Mar 11, 2025
Dawn Laney, genetic counselor at the Emory University School of Medicine, discusses a Fabry disease registry analysis examining growth in children being treated with agalsidase beta. Fabry disease is a rare lysosomal storage disease characterized by a...
by Madaline Spencer | Mar 10, 2025
Eric Wallace, MD, The University of Alabama at Birmingham, discusses an analysis of treatment comparisons between pegunigalsidase alfa versus other therapies for left ventricular mass index (LVMi) in Fabry disease. Fabry disease is a rare lysosomal...
