title: Effect of enzyme replacement therapy (ERT) added to Home Mechanical Ventilation (HMV) in Adult Pompe disease.
abstract: Adult Pompe disease/acid maltase deficiency is an autosomal recessive disorder resulting in accumulation of glycogen in skeletal muscles, leading to myopathy frequently involving respiratory muscles. This involvement can cause respiratory insufficiency that may present as acute hypercapnic respiratory failure. Enzyme replacement therapy (ERT) with alpha - glucosidase alfa, the only disease-specific treatment, has been available as treatment option since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients as well as positive association with survival. We present two cases where addition of ERT to Home Mechanical Ventilation (HMV) showed improvements in lung function and gas exchange that may not be entirely attributable to nocturnal HMV and therefore may further indicate the beneficial role of ERT in conjunction with HMV in Adult Pompe disease.
authors.affiliation: Department of Respiratory Medicine and Physiology Birmingham Heartlands Hospital Birmingham UK.
authors.forename: Nadia
authors.initials: N
authors.lastname: Sayeed
authors.affiliation: Department of Respiratory Medicine and Physiology Birmingham Heartlands Hospital Birmingham UK.
authors.forename: Pooja
authors.initials: P
authors.lastname: Sharma
authors.affiliation: Department of Respiratory Medicine and Physiology Birmingham Heartlands Hospital Birmingham UK.
authors.forename: Manahil
authors.initials: M
authors.lastname: Abdelhalim
authors.affiliation: Department of Respiratory Medicine and Physiology Birmingham Heartlands Hospital Birmingham UK.
authors.forename: Rahul
authors.initials: R
authors.lastname: Mukherjee
keywords: Adult Pompe disease; Home Mechanical Ventilation; enzyme replacement therapy; non‐invasive ventilation