Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

Enzyme replacement therapy (ERT) has substantially improved the prognosis in classic-infantile Pompe patients. Different dosing regimens have been reported in the literature, but no study comparing the effects of different dosing regimens in a larger cohort of classic-infantile Pompe patients has been published. The aim of this study was to obtain an overview of dosing regimens and treatment outcome within the European Pompe Consortium (EPOC). A retrospective, multicentre study was conducted, including 116 confirmed classic-infantile patients treated with ERT from France, Germany, Italy and the Netherlands.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: I. Ditters, H. Huidekoper, M. Kruijshaar, A. Hahn, T. Mongini, F. Labarthe, M. Tardieu, J. van den Hout, A. van der Ploeg Source Type: research