by Madaline Spencer | May 12, 2023
Ponni Subbiah, MD, MPH, Chief Medical Officer at Acadia Pharmaceuticals, discusses the results of the LAVENDER trial, which led to the approval of trofinetide (DAYBUE) in patients with Rett syndrome. Rett Syndrom Background Rett syndrome is a rare...
by Madaline Spencer and James Radke, PhD | May 11, 2023
Christian Marsolais, Ph.D., Chief Medical Officer of Theratechnologies, discusses three studies presented at the American Association for Cancer Research (AACR) conference targeting SORT1-positive cancers. Sudocetaxel zendusortide (TH1902) is a proprietary...
by Craig McCabe | May 10, 2023
Aimee Donald, MBChB, PhD, Pediatrician at Royal Manchester Children’s Hospital, and Professor at the University of Manchester, discusses the management of patients with Gaucher disease type 2. Gaucher disease is a rare lysosomal disorder due to reduced...
by CheckRare Staff | May 9, 2023
Constance Smith-Hicks, MD, PhD, Neurologist and Director of the Center for Synaptic Disorders at the Kennedy Krieger Institute, gives a detailed overview of Rett syndrome. As Dr. Smith-Hicks explains, Rett syndrome is a rare progressive neurodevelopmental condition...
by James Radke, PhD and Craig McCabe | May 8, 2023
Brenna Bentley , MS, GCG, genetic counselor and patient research coordinator for the United MSD Foundation lists some of the more common symptoms observed in children with multiple sulfatase deficiency (MSD). MSD is a rare genetic disease due to mutations in...
