Features

Hagit Baris-Feldman

Israel Emerges as Global Powerhouse in Rare Disease Research

TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
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…

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…

Patient Perspectives


Pompe Disease Clinical Insights


Rare Care Podcast

Barry Byrne, MD, director of the University of Florida’s Powell Gene Therapy Center in Gainesville, has spent years researching potential gene therapies for Pompe disease. In this edition of the Rare Care podcast, Dr. Byrne comments on the FDA’s recent approval of avalglucosidase alfa-ngpt (Nexviazyme) to treat Pompe, as well the future of gene therapies in treating the disease.