Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.
van der Meijden JC, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Beek NAME, van der Ploeg AT
Orphanet journal of rare diseases, 2018 05 22
Abstract
Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzyme replacement therapy (ERT) to positively affect motor and respiratory outcomes. Here we investigate whether ERT reduces patients' risk of needing a wheelchair or respirator.