Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
The Charité is Europe’s largest university hospital (>150.000 in- >1.000.000 out-patients/y, >7000 students, 150.000.000 € extramural research funding) and assures translational approaches and state of the art treatment in all areas of care (budget 1.4 Billion €/y). Both PMDU and CE-RMDA provide:
- COMPREHENSIVE, MANAGED CARE: multidisciplinary care – from neonatal screening, diagnosis, initiation/continuity of therapy and follow-up (FU) of patients on therapy. PMDU: For metabolic emergencies highly specialized interventions like hemodialysis or liver transplantation are available. CE-RMDA: For those without available therapy we provide supportive care and documention of the natural course. – Medical SOPs (~75% of diagnoses) and structured FU schemes are available.
– We use managed care.
- FERTILITY and PREGNANCY: CE-RMDA: – In young adults with metabolic diseases we focus on fertility, pregnancy/parturition.
- METABOLIC EMERGENCIES PMDU: – Together with the PMDU the ED covers all metabolic emergencies. CE-RMDA: – Experience in adult metabolic emergencies is low due to the low prevalence of these diseases. Thus, we are setting up emergency strategies for adult patients with metabolic diseases.
- TRANSITION: – PMDU/CE-RMDA have a structured transition/transfer policy sharing staff to pursue ongoing familiarity with the medical personal.
- “EMERGING ADULTS”: CE-RMDA: – we are setting up a transition program for patients > 18 yrs. The health of “emerging adults” (18-30yrs) with special health care needs is at risk due to mental and intellectual instability.
- INTERCULTURAL COMMUNICATION: PMDU and the CE-RMDA integrate patients with migration background and have multi-ethnic staff . The CE-RMDA provides education and sensitization of the staff for intercultural communication/co-operation (see Appendix).
- CLINICAL RESEARCH: Both Centres participate in international multicentre trials and registries (see Appendix for CE-RMDA). U. Plöckinger is experienced in setting up/ heading registries for rare diseases (German Acromegaly -, German, Neuroendocrine Tumour -, German Peptide Radio Receptor Therapy -, European Neuroendocrine Tumour Registry).
- BASIC RESEARCH: CE-RMDA U.Plöckinger is head of the clinical consortium of a BMBF-financed research project in neuronopathic Gaucher disease. For IITs see Appendix.
- QUALITY MANAGEMENT (QM): PMDU – is certified according to QEP, – Further, the interprofessional and interdisciplinary comprehensive care approach is accepted and supported by health insurances which grant permanent financial support to maintain
the specialized structures. CE-RMDA: – The CE-RMDA is certified [ISO 9001:2008. graded 1.2 (range 1-6)] and has an exceptionally well structured quality policy for administrative and medical tasks.
- SCIENTIFIC SOCIETIES: NW is a member of APS, SSIEM and DGKJ . UP is a board member of ASIM, member of SSIEM, ES, ADA, EES, EASD, ENETS DGE, and DDG (see Appendix for Acronyms).
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
Both, PMDU and CE-RMDA provide all services for diagnosis/therapy of metabolic diseases (MD) within the framework of the Charité, European’s largest University Hospital, and beyond. ERT is available at both centres, as are any specific treatment facilities or interventions at the Charité (Attachment 5, Organigram Charité and www.charite.de/fileadmin/user_upload/portal/charite/organisation/download/qualitaetsberichte/QB_Standard_Charite_20140801_01.pdf). Social /psychosocial interventions are available, as is a structured transition program. The PMDU has all facilities necessary for a timely diagnosis, emergency and long-term treatment. The CE-RMDA has, in addition to providing out-patient -, day – and inpatient
care, developed programs concerning fertility/pregnancy, emergency plans for adults and transitional care for emerging adults (18-30J). Both centres deliver highly structured and well documented patient care.
Regular follow-up is achieved by a standardized patient management with the support of a coordinator.
PREVENTION The Charité (PMDU) is responsible for the Newborn screening and confirmatory testing in Berlin and Brandenburg (catchment area 6 mill. inhabitants) in close cooperation with the metabolic laboratory of Labor Berlin. Genetic counselling is performed in cooperation with the Department of Human Genetics. CERMDA In the framework of our fertility/pregnancy program genetic counselling is performed in cooperation with the Department of Human Genetics. Prevention, e.g. genetic screening, is offered to family members of a newly diagnosed patient with inherited MD. All physicians caring for MD at the CE-RMDA are board–certified for genetic counselling. ACUTE CARE: PMDU Workflows for acute care during metabolic crises in children are available in the HIS, including specifically trained physicians/staff in the ER, ICU,regular wards.CE-RMDA Providing emergency services for adults is one of the tasks of the CE-RMDA. We provide emergency cards, a list of the actual medication, the medical letter, an anaesthesia emergency card and a detailed emergency plan. All patients at risk are marked as patients with “rare MD at possible risk for metabolic crisis”in the HIS.
- AMBULATORY SERVICES are provided by the PMDU and the CE-RMDA. INTERVENTIONAL
- THERAPEUTIC SERVICES are available at the PMDU and the CE-RMDA.
- REHABILITATION SERVICES PMDU and CE-RMDA organize rehabilitation services according to the patient’s need on an out-patient basis.
- SOCIAL CARE SERVICES are available within the framework of the Center for chronically ill children (PMDU), on an out-patients basis as part of the managed care provisions (CE-RMDA).
- PALLIATIVE CARE SERVICES: Paediatric patients are taken care of in close cooperation with the SAPV (specialized ambulatory palliativ care) at the Children’s Hospital. CE-RMDA Services are available via the Charite.
- PATIENT ORGANISATIONS: CE-RMDA is in close contact with pats’ organisations (education, meetings, projects).