News

Enlarged Tongue Leads to Severe Symptoms in Elderly LOPD Patients

Macroglossia, or an abnormally enlarged tongue, caused difficulty swallowing, speech abnormalities, and reduced breathing during sleep for five people with late-onset Pompe disease (LOPD), according to a recent French study. Treatment with enzyme-replacement therapy (ERT), a standard of care for Pompe patients, did not alleviate the debilitating symptoms,…

Increased Education Crucial to Improving Rare Disease Care, Survey Finds

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…

Muscle Function Improves With Resistance Exercise Program: Study

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…

#MDA2022 – Gene Therapy ACT-101 Boosts GAA Levels in Early Trial

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…