FDA Delays Decision on AT-GAA Due to Inability to Inspect China Site

The U.S. Food and Drug Administration (FDA) has delayed a decision on whether to approve cipaglucosidase alfa, the biologic component of AT-GAA — a treatment being developed by Amicus Therapeutics for late-onset Pompe disease. The agency was unable to inspect a manufacturing site of WuXi Biologics in China…

Better Newborn Screening Needed for Pompe, Could Improve Prognosis, Report Says

The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic disorder. A sensitive and inexpensive screening system could improve the prognosis of infants with Pompe disease (PD), the researchers…

Chinese Pompe Patients Show Symptoms a Decade Earlier Than Others, Review Finds

Chinese patients with late-onset Pompe disease develop symptoms and are diagnosed at least 10 years earlier than patients from other areas of the world, a Pompe disease registry shows. The study, “Characteristics of Pompe disease in China: a report from the Pompe registry” was published in the journal…