Meta-opinion: from screening to diagnosis of Pompe disease – a European perspective

Abstract

ABSTRACTIntroduction: After 10 years of alglucosidase alfa therapy of Pompe disease, elements of the disease remain unsolved e.g. how and whom to screen, or when to start and stop therapy.Areas covered: In this paper, we review published studies for screening strategies by dried blood spot testing (DBS) in Pompe disease of all ages.Expert opinion: To find patients with late-onset Pompe disease early, a targeted screening strategy was demonstrated to be highly successful. Since the introduction of alglucosidase alfa as an effective treatment for Pompe disease at all ages, there has not yet been another licensed pharmacologic intervention. Up to a third of Pompe patients need alternative therapies. New therapies will need to show a significantly greater sustained benefit for Pompe patients with a better balance of cost effectiveness. Finally, as another consequence, DBS, with the high incidence of positive samples from patients with late-onset Pompe disease, cannot be recommended currently to be included in newborn screening. Presently, screening of infants seems feasible with a two-tier strategy combining DBS with cardiac and pulmonary diagnostics. This approach avoids reporting late-onset Pompe disease (LOPD), which shows unpredictable phenotypes and the therapeutical outcome remains uncertain.