News

FDA Approves Nexviazyme, Next-generation ERT for Late-onset Pompe

The U.S. Food and Drug Administration (FDA) has approved Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy for late-onset Pompe disease. The medication, administered by infusion into the bloodstream every two weeks, is approved for patients 1 year or older and is expected to be available in the…

Advocates Lobby US Congress During Virtual Rare Disease Week

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

Pompe Genetic Prevalence Higher in Korea Than Japan

Based on a literature and database analysis, the predicted genetic prevalence of disease-related variants in the GAA gene — the underlying cause of Pompe disease — is higher in the Korean population than in Japanese, a study indicates. The study, “Two Approaches for a Genetic Analysis…

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…

EU Approval Urged for New Sanofi ERT Avalglucosidase Alfa

A committee of the European Medicines Agency (EMA) has recommended the approval of avalglucosidase alfa, a next-generation enzyme replacement therapy (ERT) developed by Sanofi Genzyme, for people with Pompe disease. That recommendation, by the Committee for Medicinal Products for Human Use (CHMP), paves the way for marketing authorization to be granted by…

Partnership Aims to Lower Out-of-Pocket Costs for Rare Disease Meds

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

LOPD Adults in China Cite Poor Quality of Life

Adults with late-onset Pompe disease (LOPD) report worse physical health and quality of life than their counterparts with other rare diseases, a national survey in China has found. In the study, however, stronger social support — in the form of social interaction — was linked to better quality of…

Nominations Open for 2022 Eurordis Black Pearl Awards

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

Study Stresses Importance of Early Treatment for Different Mutations

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.

New GAA Mutations ID’d as Cause of Late-onset Disease

Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…