Disease progression

Despite treatment for years with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — people with late-onset Pompe disease (LOPD) still develop airway abnormalities and experience reduced lung function, a small Taiwanese retrospective study shows. While none of the five patients in the study required a ventilator…

The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…

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…

Strength training exercises did not aggravate muscle damage in people with late-onset Pompe disease (LOPD), although patients with significant changes in certain markers of muscle damage should be monitored while determining their best training regime. This result comes from the study “Muscle damage in response to a…

Fat replacement of back, abdominal, and trunk muscles in late-onset Pompe disease (LOPD) correlates with diaphragm weakness and worsening respiratory function, a long-term clinical study has determined. “These results suggest that identification of fat replacement in these areas … should…

At a recent webinar, experts cautioned that it could be dangerous for people with Pompe disease to stop treatment due to the COVID-19 pandemic. The disease that would come to be called COVID-19 was first reported in the U.S. more than a year ago. As it spread across…

Patients with late-onset Pompe disease (LOPD) usually develop breathing problems as the disease progresses. If you have LOPD, you may eventually need ventilation to aid your breathing. Here is more information about how Pompe affects breathing and about ventilators that may help to ease the disease’s symptoms. How…

A large-scale analysis of the proteins and lipids found in the blood of people with Pompe disease showed significant changes involving inflammatory responses and the suppression of cellular processes such as immune function and lipid metabolism, a study reported. These findings…

A chest MRI can be used to detect early signs of respiratory muscle weakness in people with Pompe disease, even when lung function is still within a normal range, a study reported. According to its investigators, the findings highlight the importance of these imaging tests to rapidly identify patients…

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a study suggests. Selected outcomes, part of the Patient-Reported Outcomes Measurement Information System (PROMIS), were found to represent the…