News

At-home Muscle Test May Help Monitor LOPD

Electrical impedance myography (EIM), a non-invasive and painless muscle test that can be conducted at home, is associated significantly with functional measures in adults with late-onset Pompe disease (LOPD), according to a small study. Notably, similar EIM results were obtained when the test was performed by patients at home using…

Q&A with Sanofi: Nexviazyme Safely Aids Muscle Strength in LOPD

Newly approved Nexviazyme (avalglucosidase alfa) is a next-generation, alternative enzyme replacement therapy for late-onset Pompe disease patients starting at age 1. In clinical trials that supported the Aug. 6 approval by the U.S. Food and Drug Administration (FDA), meaningful improvements in respiratory muscle strength and mobility were evident in patients given…

Register Now for Global Genes’ RARE Patient Advocacy Summit

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

GI Symptoms in LOPD Widespread, Study Finds

More attention should be given to evaluating the gastrointestinal symptoms of individuals with late-onset Pompe disease (LOPD) because they cause a significant disease burden, according to a recent study. The results of that study highlight the need for more effective smooth muscle-targeted therapies in LOPD, as current treatments often…

NORD Rare Disease Summit, Online Oct. 18-19, Open for Registration

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

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…