Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
The healtcare provider performs enzyme replacement therapies in about 30 patients with different lysosomal storage disorders. We collect data of all patients with infantile Pompe disease in Germany. We also assessed data about 35 patients with juvenile Pompe disease in Germany. In conjunction with other experts, we developed recommendations and will further develop guidelines for diagnostics and treatment of these two patient groups. We facilitate data transfer and spreading of new knowledge between single centers and single medicins taking care for these patients. The healthcare provider (Andreas Hahn) is member of the scientific board of the German self-help group for Pompe disease and collaborates with this group. We are organising studies on the national level and take part in multinational studies concerning infantile and juvenile Pompe disease. The healthcare provider (Andreas Hahn) is also member of the European Pompe Consortium (EPOC), and therefore is embedded in multinational studies and in the development of European guidelines in the field of Pompe disease.
Collectively, we will specifically try to ameliorate the treatment of patients with Pompe disease within the network.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
The healtcare provider (Department of Child Neurology) consists of a Social-Pediatric Centre and a neuropediatric ward. We are able to perform ERT in our department, to offer social care services, physiotherapy, ergotherapy and speech therapy. We are also able to do diagnostic procedures such as MRI, blood taking, lumbar puncture, muscle and skin biopsy, and also enzyme determination. We have access to an intenasive care unit, allowing to manage acute exacerbations of the disease or severe side effects of treatment, and to initiate home ventilation. As part of an university hospital, we have close collaborations with the departments of Neuropathology, Neuroradiology, cardiology, and our Institute of Human Genetics. We are also able to offer palliative treatment supporting patients and families during the terminal phase of an illness.The center is involved entire chain of care for newborn screening on fatty acid oxidation disorders. Based on studies performed by the center the Dutch newborn screening program jhas been adapted. Furthermore, national guidelines are developed and maintained to ensure that optimal follow-up and treatment after an initial newborn screening result indicative for a fatty acid oxidationd disorder is ensured.
The CIMD-UMCU closely collaborates with the genetic department in which the laboratory for metabolic diseases is embedded. Which guarantees state of the art facilities for research and opens the way to detecting novel metabolic defects and unravelling metabolic pathways.