Single and multiple ascending doses of MZE001, Maze Therapeutics‘ experimental oral substrate reduction treatment for Pompe disease, were…
Articles by Patricia Inácio, PhD
The level of variability seen during an ultrasound — a parameter called echo heterogeneity index — may help to quantify…
Enzyme replacement therapy (ERT) given as early as possible may lead to better outcomes in children with classic…
Infection by SARS-CoV-2, the virus that causes COVID-19, led to mild symptoms and no hospitalizations in people diagnosed with…
Acceptable safety is being seen to date in four adults with late-onset Pompe disease (LOPD) given the one-time gene therapy …
Pompe disease patients show severe impairments in diaphragm motion, the major muscle of respiration, when compared with those who…
Despite treatment for years with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — people with late-onset…
A new enzyme replacement therapy (ERT) targeting specific cell types boosts the delivery of acid alpha-glucosidase (GAA) — the…
A committee of the European Medicines Agency (EMA) has recommended the approval of avalglucosidase alfa, a next-generation enzyme replacement therapy (ERT) developed…
Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according…