Erasmus MC University Medical Center

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  0031107044840  |     erasmusmc.nl  |    a.vanderploeg@erasmusmc.nl

The Center (HCP): The Erasmus MC University Medical Center, one of 6 designated neuromuscular centers in 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 (HCP) has specific expertise in inflammatory neuropathies (Guillain-Barré syndrome, CIDP), metabolic myopathies (Pompe disease, among others), mitochondrial diseases (MELAS , Leber, Leigh syndrome, CPEO), and DMD/BMD. For Pompe disease and Guillain-Barré syndrome, it is the only endorsed expert center in the Netherlands.

Prospects of patients: The 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. For Inflammatory neuropathies, the HCP has conducted worldwide first RCT’s showing efficacy of IV immunoglobulin (IVIg) for GBS and CIDP. New clinical and immunological studies are ongoing. National Guidelines have been chaired/written for ‘Polyneuropathy’ and ‘Guillain-Barré syndrome’.

The HCP has a strong focus on translational medicine and development for innovative therapies (gene therapy and iPS/adult stem cells) Networks: Pompe disease/metabolic myopathies: the HCP is a lead party in EPOC (European POmpe Consortium), comprising over 40 neuromuscular specialists from 15 countries. The EPOC network focusses on sharing patient data/biomaterials, studying long-term efficacy of therapy, guideline development. Our center hosts the international Pompe mutation database. We manage a worldwide patient-reported outcome survey in strong alliance with (inter)national patient organizations. In the upcoming years, EPOC will reach out for other metabolic myopathies. Inflammatory neuropathies: 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 provides an excellent basis for detailed prospective studies such as the International GBS Outcome Study (IGOS), which is initiated and coordinated by Erasmus MC. In IGOS over 1400 GBS patients from 120 centers in 18 countries, are included and comprise the largest GBS data- and biobank worldwide. Mitochondrial disorders: our center participates in several (inter)national networks.

Board representation

Professor Ans van der Ploeg MD, PhD

Professor Ans T. van der Ploeg MD, PhD is Chair of the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University. The center is a joined initiative of the departments of Pediatrics, (Child) Neurology, Internal Medicine, Clinical Genetics and Hospital Pharmacy to improve treatment, care and diagnosis of children and adults, to stimulate translational research, to provide education …

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Location

Group membership

Erasmus MC University Medical Center participates in the following groups…
Specialised Groups
Muscle diseases
Peripheral Nerve Disease
Cross Cutting Specialised Groups
Neuromuscular Imaging
Genetics
Advisory Boards
Research

Erasmus MC University Medical Center is registered with the Care and Trial Site Registry

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission


“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern