News

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

The 9th annual International Pompe Day will be celebrated on April 15 to raise global awareness of Pompe disease and highlight the strength and resilience of the patient community. The event, with the slogan “Together We are Strong,” is organized by the International Pompe Association (IPA) — a…

Infection by SARS-CoV-2, the virus that causes COVID-19, led to mild symptoms and no hospitalizations in people diagnosed with Pompe disease, a small Dutch study reports. However, since the patients had mild disease and were relatively young, more study is needed to assess outcomes in this population, the researchers…

An intervention involving whole body vibration therapy showed promise for improving movement ability and muscle composition in a small study involving three children with non-classic infantile-onset Pompe disease. The study, “Vibration assisted rehabilitation in patients with Pompe disease: A case series,” was published in the…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

A program of supervised resistance exercise can improve muscle function — including in muscles needed to breathe — for adults with late onset Pompe disease (LOPD), a small study suggests. “Our findings encourage use of supervised exercise and inspiratory muscle training for improving physical function and health to improve…

Treatment with the two-part investigational therapy AT-GAA improved walking ability and lung function for up to three years among adults with Pompe disease in a Phase 1/2 clinical trial. Barry Byrne, MD, PhD, from the University of Florida, presented the findings at the 2022 MDA Clinical & Scientific Conference,…

The investigational gene therapy ACT-101 overall was well-tolerated among three people with late-onset Pompe disease (LOPD) who were treated in a Phase 1/2 clinical trial. Moreover, the trial results also showed that treatment markedly increased levels of the GAA enzyme — deficient in Pompe disease — in the patients’ muscle…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Most children with Pompe disease in a small study developed antibodies against the enzyme replacement therapy Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — but their presence did not limit treatment efficacy, its researchers reported. Children with the highest levels of antibodies also experienced most of…