adult-onset Pompe disease

People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…

Amicus Therapeutics’s investigational therapy AT-GAA (ATB200/AT221) continues to show promise as a safe and effective treatment for adults with Pompe disease, according to the latest results from an ongoing Phase 1/2 clinical trial. Pompe disease is caused by acid alpha-glucosidase (GAA) enzyme deficiency, leading to the build-up of glycogen…

A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of the Pompe mutation database by linking disease-associated variants to clinical severity,” appeared in the journal Human…

Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to differentiate between patients with adult-onset Pompe disease and those without the disease, and between patients with and without symptoms, a study reports. These findings suggest that monitoring PDGF-BB could help track disease progression and determine…

A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme (alglucosidase alfa), a case study reports. The woman, however, chose not to breastfeed the infants. The study, “Two successfully completed pregnancies in adult onset Pompe disease,…