Advances in newborn screening for Pompe disease and resulting clinical outcomes
Journal
Expert Opinion on Orphan Drugs
Journal Volume
4
Journal Issue
1
Pages
21-29
Date Issued
2016
Author(s)
Abstract
Introduction:Pompe disease is a lysosomal storage disorder caused by a deficiency in acid α-glucosidase, which is responsible for the degradation of lysosomal glycogen. Enzyme replacement therapy (ERT) is now the standard treatment for Pompe disease and as such newborn screening to diagnose patients early is advantageous for the best therapy outcomes.Areas covered:This review is based on personal experience and the currently available literature; it provides an overview of the advances in newborn screening for Pompe disease and of the efficacy and limitations of ERT for newborns after identification by screening.Expert opinion: Newborn screening coupled immediately with ERT provides the best outcome for Pompe disease, but residual muscle weakness and other morbidity promotes development of second-generation therapies for improvements in both the muscular and neurologic aspects. Drawbacks of newborn screening for Pompe disease, such as false positives due to pseudodeficiency, have been largely eliminated and interference by anti-drug antibodies in certain individuals may be resolved by preventive immune modulation therapy. However, uncertainty regarding newly discovered genotypes and the onset age in later-onset individuals burden the clinicians, parents and babies and need to be further addressed carefully. ? 2015 Taylor & Francis.
SDGs
Other Subjects
drug antibody; clinical effectiveness; disease marker; enzyme replacement; false positive result; genotype; glycogen storage disease type 2; health care policy; human; immunomodulation; immunotherapy; minimal residual disease; morbidity; muscle weakness; newborn screening; onset age; outcome assessment; personal experience; priority journal; Review
Publisher
Taylor and Francis Ltd
Type
review