Enzyme replacement therapy (ERT) was effective in a newborn with infantile-onset Pompe disease (IOPD) who developed treatment antibodies and had low blood levels of a type of immune cell called neutrophils, according to a case report. Researchers stressed the importance of including Pompe disease in newborn screening programs…
The U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation to Aro Biotherapeutics’ ABX1100, an investigational substrate reduction therapy for Pompe disease. This designation is awarded to experimental therapies for rare pediatric disorders with serious or life-threatening manifestations that primarily affect young people from birth…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
The number of people with Pompe disease varies according to ethnic group and may be higher among all ethnicities than previously estimated, a study suggests. According to the investigator, the study stresses the importance of analyzing genetic disorders in the general population to improve predictive and preventive medicine. “With this…
Get regular updates to your inbox.