30 Nov 2017
Home > Publications > Posters >
A A A
The contribution of Erasmus MC University Medical Center to the field of neuromuscular disorders.
Authors:
Ans Ploeg (vanderploeg@erasmusmc.nl), Prof. A.T. van der Ploeg, MD, PhD, Erasmus MC University Medical Center, Center for Lysosomal and Metabolic Diseases, Department of pediatrics
Prof. P.A. van Doorn, MD, PhD, Erasmus MC University Medical Center, Center for Lysosomal and Metabolic Diseases, Department of Neurology
N.A.M.E. van der Beek, MD, PhD, Erasmus MC University Medical Center, Center for Lysosomal and Metabolic Diseases, Department of Neurology and Pediatrics
The Erasmus MC University Medical Center, Rotterdam, the Netherlands, covers all neuromuscular diseases in children and adults at high academic level. All services for neuromuscular diagnostics (clinical neurophysiology, genetics, immunology, pathology, and specialized metabolic diagnostics) are available. Patient care (multidisciplinary teams including rehabilitation, home based ventilation/therapies and transition) is well organized. We have contacts with all relevant (inter)national patient organizations. Our center has specific expertise in inflammatory neuropathies (Guillain-Barré syndrome,CIDP) and metabolic myopathies (Pompe disease, among others). For Pompe disease and Guillain-Barré syndrome, it is the only endorsed expert center in the Netherlands. Unique aspects: Our HCP played a major role in development of enzyme replacement therapy for Pompe disease and performed worldwide’ s first clinical application. With ERT registration, Pompe disease has become the first treatable inheritable muscle disorder. The HCP is a lead party in EPOC (European POmpe Consortium), comprising over 40 neuromuscular specialists from 15 countries. Our HCP has a strong focus on translational medicine and development for innovative therapies (gene therapy and iPS/adult stem cells). Our center hosts the international Pompe mutation database. We manage a worldwide patient-reported outcome survey in strong alliance with (inter)national patient organizations. For Inflammatory neuropathies, the HCP has conducted worldwide first RCT’s showing efficacy of IV immunoglobulin (IVIg) for GBS and CIDP. Our center heads the Dutch GBS Study group currently conducting RCT’s in GBS and CIDP. We play a key role within the Inflammatory Neuropathy Consortium (INC), comprising at least 180 neurologists from over 25 countries. This platform performs the International GBS Outcome Study (IGOS), with 1200 GBS patients in 120 centers and 18 countries, and hosts the largest GBS data- and biobank.