Pompe Features

Hagit Baris-Feldman

Israel Emerges as Global Powerhouse in Rare Disease Research

When it comes to rare disorders, Israel—a New Jersey-sized nation of 9.3 million that’s made headlines this year for its highly successful coronavirus vaccination campaign—is clearly an emerging powerhouse. 

woman prepares an IV Drip

Late-Onset Pompe Disease in the Era of Enzyme Replacement Therapy

Pompe disease is a rare, multisystemic, autosomal recessive disease also known as glycogen storage disease type II. It is caused by the lack or deficiency of lysosomal acid-alpha-glucosidase (GAA), which leads to the accumulation of glycogen within lysosomes that manifests as a multisystem disorder. There was no specific treatment for Pompe disease until the first…

international Pompe Day

Scientists Continue Pursuit of Gene Therapy for Pompe Disease as Second ERT Nears Launch

Researchers are racing to develop a gene therapy for Pompe disease, even as Sanofi Genzyme prepares to market avalglucosidase alfa-ngpt (Nexviazyme®) for patients at least 1 year old with the late-onset version of the illness. Until the US Food and Drug Administration approved avalglucosidase alfa on August 6, 2021, the only other drug cleared to treat…

Next post in Pompe Features