by CheckRare Staff | Jul 10, 2022
Matthew Ellinwood, DMV, PhD, Chief Scientific Officer at the MPS Society, provides an overview of the mucopolysaccharidoses (MPSs) and mucolipidoses (MLs). The MPSs are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain...
by CheckRare Staff | Jun 21, 2022
Mark Forman, MD, PhD, Chief Medical Officer at Passage Bio, discusses long-term clinical and biomarker data from Cohort 1 in the phase 1/2 Imagine-1 study of PBGM01, a gene therapy under investigation for GM1 gangliosidosis. This data was presented at the 2022...
by CheckRare Staff | Jun 10, 2022
Ann Barbier, MD, PhD, Chief Medical Officer at CAMP4 Therapeutics, discusses CAMP4’s investigational RNA-based therapy for Dravet syndrome, CMP-SCN (CO-3527). Dravet syndrome is a rare neurological condition that usually appears during the first year of life as...
by CheckRare Staff | May 17, 2022
John Jefferies, MD, of the University of Tennessee Health Science Center, discusses the importance of determining the etiology of left ventricular hypertrophy (LVH) to determine if it is a genetic problem (such as Fabry disease). Fabry disease is a rare...
by CheckRare Staff | May 11, 2022
Dalia Moawad, MD, Executive Director, Head of Neurological Rare Diseases, Medical Affairs at Genentech, discusses 3-year data from the FIREFISH study of risdiplam (Evrysdi) in infants with spinal muscular atrophy (SMA) type 1. SMA is a rare inherited...
