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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…

Interruptions to Myozyme enzyme replacement therapy (ERT) regimens during the COVID-19 pandemic led to worsened motor symptoms and poorer respiratory function in patients with Pompe disease, a French study found. These decreases in motor and respiratory function — seen after just a couple of months — were not…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

Infection by the virus that causes COVID-19 led to mild-to-moderate symptoms in four people with late-onset Pompe disease (LOPD) and pulmonary involvement, despite the increased risk of severe complications in such cases, scientists reported. “COVID-19 infection can result in a benign course in some patients with LOPD. However, individuals with LOPD…