late-onset disease

LOPD Patients Can Walk Farther After Enzyme Replacement Therapy

Walking distance improved in late-onset Pompe disease patients on enzyme replacement therapy (ERT), while their lung function and muscle strength remained unchanged, a meta-analysis has found. More studies are, however, needed to confirm these findings and “to obtain more…

How Can Spirometry Help Track Pompe Disease Progression?

Spirometry is a common medical test that you can take at your local hospital or clinic to evaluate how well your lungs are working. In late-onset Pompe disease, doctors can use spirometry to track disease progression. What is late-onset Pompe disease? Pompe disease is a rare,…

Break in ERT Treatment Linked to Worse Outcomes in Late-Onset Pompe Patients, Study Reports

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 Better Than Clinical Exam at Detecting Pompe Disease, Study Shows

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…