Erasmus MC, University Medical Center, Rotterdam

Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network

Erasmus MC, University Medical Center, Rotterdam, Netherland
Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

Our center is a reference center for the whole spectrum of metabolic diseases (catchment area of 5 million):
– Patients are treated within a multidisciplinary team consisting of physicians (e.g. pediatricians and internists specialized in metabolic diseases, (child)neurologists, rehabilitation physician, clinical geneticists, cardiologists, pulmonologist, (orthopedic/neuro) surgeons), (research) nurses, physiotherapists, dieticians, (neuro)psychologists and social workers.
– 24 hr/day and 7 days/week emergency treatment and on call services for children and adults with a metabolic disorder.
– In house laboratories with broad diagnostic possibilities for the spectrum of metabolic diseases. These include: metabolite analysis (e.g. acylcarnitines, amino acids, organic acids, glycosaminoglycans, oligosaccharides, tetrasaccharides, polyols, purines/pyrimides, bile acids, phytanic/pristanic acid, very long chain fatty acids, creatine/guanidinoacetate, sialic acid, porphyrines), enzyme assays (e.g. all lysososomal diseases, glycogenoses, disorders of glucose/galactose metabolism, oxidative phosphorylation defects, urea cycle defects, disorders of purine/pyrimidine metabolism, porphyrias) and molecular analysis for many disorders, NGS, WES .
Our center has been accredited as a national center of expertise for the following conditions:
– Pompe’s disease: exclusively providing enzyme replacement therapy (which was developed at our center) for all patients in the Netherlands. Involved in clinical trials evaluating new treatments for Pompe’s disease. Conducting clinical and translational research aimed at the development of new therapies including gene therapy and stem cell therapy for Pompe’s disease. Curator of the international Pompe mutation database. Co-founder and active
member of the European Pompe Consortium (EPOC).
– (Other) lysosomal diseases: providing enzyme replacement therapy for mucopolysacchardidoses type I and nationwide for type II and VI in the Netherlands. Involved in clinical trials evaluating new treatments for mucopolysaccharidosis type VI . Conducting clinical and translational research aimed at developing new therapeutic options for mucopolysaccharidoses. National registries for patients with neuronal ceroid lipofuscinosis type 1 and 2 and mucolipidoses.
– Porphyrias: the only reference center for porphyrias in the Netherlands. Involved in the clinical trials and implementation of the first treatment for erythropoietic protoporphyria (EPP). Active member of the European Porphyria Network, EPNET.
– Urea cycle defects and organic acidurias: individualized emergency protocol for each patient. Involved in national and international development and implementation of clinical guidelines and care paths. Active member of the European network for Intoxication type Metabolic Diseases (EIMD).