by Madaline Spencer | Apr 25, 2023
Sitra Tauscher-Wisniewski, MD, Vice President of Clinical Development & Analytics at Novartis Gene Therapies, discusses the importance of early diagnosis of spinal muscular atrophy (SMA). SMA is a genetic disease that affects motor neurons in the...
by James Radke, PhD and Madaline Spencer | Apr 24, 2023
Alex Dorenbaum, MD, Chief Medical Officer of Reneo Pharmaceuticals, gives an overview and update of the STRIDE study of mavodelpar (REN001) in primary mitochondrial myopathies (PMM). What Are PMMs? PMMs are a group of rare metabolic disorders caused by...
by Peter Ciszewski | Apr 22, 2023
Jordi Diaz-Manera, MD, PhD, Professor of Neuromuscular Diseases at Newcastle University discusses the latest results from an ongoing phase1/2 clinical trial testing gene therapy for late-onset Pompe disease. Pompe disease is a lysosomal disorder due to an...
by Craig McCabe | Apr 21, 2023
Alpha mannosidosis is a multisystemic, lysosomal disorder caused by a deficiency in the enzyme alpha-D-mannosidase that leads to an abnormal accumulation of glycoproteins that can damage various tissues and organs. The symptoms and severity of alpha...
by Madaline Spencer | Apr 20, 2023
Julia Warren, MD, Ph.D., Associate Professor of Hematology at the University of Pennsylvania and Hematologist at Children’s Hospital of Philadelphia, discusses the results of a phase 1b trial evaluating mavorixafor across patients with chronic neutropenic...
