late-onset Pompe disease

Most patients with juvenile- and adult-onset Pompe disease have difficulties coughing that put them at an increased risk for respiratory problems, but few of them incorporate techniques of pulmonary hygiene into their daily routines, a small study suggests. The study, “Cough Effectiveness and Pulmonary Hygiene…

Long-term interruption of enzyme replacement therapy (ERT) can lead to negative outcomes for late-onset Pompe disease patients, affecting their lung and exercise capacity as well as quality of life, a Swiss retrospective study shows. However, for most patients, resuming ERT can help restore the key clinical parameters that deteriorated during the pause…

Newborn screening for lysosomal storage disorders, including Pompe disease, is much more likely to detect individuals at risk for late-onset disease, according to a four-fear analysis of data from a pilot newborn screening program. The study “The New York pilot newborn screening program for lysosomal storage diseases: Report of the…

Newborn screening seems better at identifying Pompe disease cases than a clinical examination, especially for classic infantile-onset Pompe disease, according to researchers. Their study, “Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease,” was published in the journal Medical Decision Making Policy & Practice. Screening…

Clenbuterol as an add-on therapy appears to be safe and significantly improves the effectiveness of enzyme replacement therapy (ERT) in patients with late-onset Pompe disease, according to the results from a Phase 1/2 trial. The study, “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase…

Magnetic resonance imaging (MRI) seems to be an effective and efficient tool to evaluate muscular status and monitor patients with late-onset Pompe disease (LOPD), according to researchers. Their study, “Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study,” was published in the…

Patients with late-onset Pompe disease have a lower rate of severe heart disease than those with other forms of the disease, according to a large, retrospective study. This finding suggests that these patients may be able to have less frequent heart-related follow-up exams, such as electrocardiograms (ECG) and echocardiograms (Echo).

Patients with Pompe disease may develop structural changes in the basilar artery — an important artery that supplies oxygen to the brain — that may affect their risk for cerebrovascular complications, such as stroke. The study with that finding, “Decreased outlet angle of the superior cerebellar artery as indicator…