by Peter Ciszewski | Apr 8, 2022
Mathias Schmidt, PhD, President and CEO of JCR Pharmaceuticals USA, discusses the mechanism of action of pabinafusp-alfa, an investigational therapy for mucopolysaccharidosis type II (MPS II; Hunter syndrome). MPS II is a rare, progressive lysosomal disease...
by Peter Ciszewski | Apr 8, 2022
As part of this expert roundtable, Paul Wuh-Liang Hwu, MD, PhD of the Taipei National University Hospital, described current approaches to treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. Dr. Hwu said that for typical infant cases, it is very...
by Peter Ciszewski | Apr 7, 2022
Matthew Ellinwood, DVM, PhD, Chief Scientific Officer at the National MPS Society, explains the 100 Patient Project — a patient registry underway to better understand mucopolysaccharidosis II (MPS II). MPS II, or Hunter syndrome, is a rare lysosomal disease due...
by Peter Ciszewski | Apr 6, 2022
Jeffrey L. Neul, MD, PhD, Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education at Vanderbilt University Medical Center, gives an overview of Rett syndrome. As Dr. Neul explains, Rett syndrome is a rare progressive...
by Peter Ciszewski | Apr 4, 2022
Marc C. Patterson, MD, Professor of Neurology, Pediatrics, and Medical Genetics, and Chair of the Division of Child and Adolescent Neurology, at Mayo Clinic, discusses 24-month interim results from an open-label extension (OLE) of the phase 2/3 NPC-002 study of...
