Designed to meet the Third Health Programme objective to facilitate access to better and safer healthcare for EU citizens, the ERKNet Registry project aims to establish an online platform for the collection of information relevant to patient health and clinical research within the framework of the European Rare Kidney Disease Reference Network (ERKNet).
This will be accomplished by the construction and implementation of a single core registry encompassing all rare kidney diseases in pediatric and adult patients.
The ERKNet Registry will collect at annual intervals (1) a common data set providing basic information about clinical, histopathological and genetic diagnosis, patient status, current kidney function and treatment modality and available biospecimens, and (2) a selected disease-specific set of key performance and outcome indicators. The latter will be defined by the ERKNet workgroups in a structured consensus-building process involving evidence-based guideline review and an iterative Delphi surveys among internal and external experts.
The Registry will contain an automated statistics and benchmarking functionality to allow continuous monitoring and benchmarking of treatment quality, guideline adherence and patient outcomes.
Existing disease- and treatment specific registries used by a major fraction of ERKNet members will be linked to the ERKNet Core Registry to allow data transmission and avoid the need of double entries. A stringent data protection policy will be applied in full compliance with the EU directive and regulation as well as national regulations on patient privacy and data protection, including central peudonymisation with separate storage of medical and patient identifying information.
In summary, we are proposing an innovative Web-based registry solution with a patient-oriented focus on continuous healthcare quality inmprovement by automated performance monitoring and Network wide benchmarking.
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The European Reference Network for rare Hereditary Metabolic Diseases (MetabERN) aims to facilitate access to the best available care and address the needs across the border of all patients affected by rare inherited metabolic diseases (IMDs) and their families. It is unprecedented that a pan-EU Network covers expertise encompassing all the IMDs (over 700) regardless of their incidence and prevalence, severity, availability of treatment and characteristics of patient population. The MetabERN is driven by the principle of patient-centeredness for the provision of its services aiming at improving the quality of life of patients and families. In this spirit, family associations (FAs) play a crucial role into the planning and decision-making system related to patient care and management as well as policy activities impacting on the EU Rare Disease Policy Agenda. World-known experts will work hand-in-hand with FAs to develop guidelines for accurate diagnosis and optimal management of IMDs in order to strengthen referral systems across the border. MetabERN will facilitate access to treatment by channeling expertise through virtual and web-based platforms to minimize patient mobility. MetabERN will serve as a hub of knowledge and information by connecting the most relevant scientific associations and EU established networks in this area. A structured collaboration is activated with other European Reference Networks with overlapping disease areas to ensure that patients receive the best available care. Knowledge of IMDs will increase among target groups, mainly Healthcare Professionals, Patients and Researchers, thanks to the tailored training activities that will be developed after a thorough check of their needs. Early uptake of medical advances will be bolstered by developing recommendations to overcome the barriers to translational research. Our focus on safety and cost-effective treatments will drive the future IMD research agenda for the next 10 years.
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This is the VASCERN Specific Grant Agreement Proposal for the second year of operation of the ERN (from March 2018 to February 2019), under the VASCERN Framework Partnership Agreement (FPA) 2017-2021.
VASCERN Network Coordinator is Prof. Guillaume JONDEAU, Cardiologist at the Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat-Claude Bernard, CRMR (Center of Reference) Marfan Diseases and related disorders.
VASCERN aims to facilitate and improve diagnosis, treatment and care for all patients suffering from rare multisystemic vascular diseases.
The European Reference Network on rare multisystemic vascular diseases (VASCERN) gathers European highly specialized multidisciplinary Healthcare Providers (HCPs) in this thematic area of expertise.
VASCERN includes 5 Rare Diseases Working Groups (RDWGs):
- Heritable Thoracic Aortic Diseases (HTAD-WG)
- Hereditary Haemorrhagic Telangiectasia (HHT-WG)
- Medium Sized Arteries (vascular Ehlers Danlos) (MSA-WG)
- Pediatric and Primary Lymphedemas (PPL-WG)
- Vascular Anomalies (VASCA-WG)
The specific VASCERN Patient Group (ePAG) enables Patient representatives to work on common issues and to be
involved in all activities.
In addition, several transversal Working Groups work on: eHealth, Training & Education, Patient Registry,
Ethics, Communication / Dissemination.
Our Action Plan for this second year will enable VASCERN to carry on with its work and reinforce its activities with regard to various Work Packages such as: Case discussion on the Clinical Patient Management System (CPMS), Patient Pathways, Clinical Guidelines / recommendations, Mobile Application (improvements), Patient Registry & clinical outcome measures, Communication (improvements), Training & Education, Pills of Knowledge, Clinical trials & research.
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GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tumours, which are often located in multiple organ systems. In case they are diagnosed with cancer they need different treatment and follow-up
as compared to non-hereditary cancers. In addition GENTURIS takes care of the relatives of these patients, for which prevention and early detection of tumours is of great importance too.
WHAT IS OUR MISSION: To inspire hope and contribute to health and well being by organizing and providing the best care to every patient in Europe with a genetic tumour risk syndrome through integrated multidisciplinary healthcare, guidelines, education and research.
WHAT IS OUR DESIRED END-STATE: Striving to be the world’s leader of genetic tumour risk syndromes in patient participation, clinical care, research and education.
The ERN GENTURIS is addressing the following challenges when it comes to the identification, genetic testing, tumour prevention and treatment of patients with genturis: 1) Great majority of genturis patients are not yet identified 2) Large variation in clinical outcomes resulting in impaired prognosis and avoidable costs 3) Guidelines are
lacking or implemented insufficiently 4) Almost no patient registries and biobanks 5) Limited research programs 6) Fragmented patient empowerment activities.
There are 4 thematic groups of syndromes: 1: Neurofibromatosis type 1, 2 & Schwannomatosis. 2: Lynch syndrome & polyposis. 3: Hereditary breast & ovarian cancer. 4: Other rare - predominantly malignant - syndromes. This group includes syndromes not covered in the other groups. It is a heterogeneous group with very small numbers of patients that will benefit greatly from a centralized approach. Within the next years not yet covered as well as newly discovered genturis will be included as well.
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This is the VASCERN Specific Grant Agreement for Year 3 to Year 5 under the Framework Partnership Agreement. VASCERN Network Coordinator is Prof. Guillaume JONDEAU, Cardiologist at the Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bichat-Claude Bernard, CRMR (Center of Reference) Marfan Diseases and related disorders. VASCERN aims to facilitate and improve diagnosis, treatment and care for all patients suffering from rare multisystemic vascular diseases.
The European Reference Network on rare multisystemic vascular diseases (VASCERN) gathers European highly specialized multidisciplinary Healthcare Providers (HCPs) in this thematic area of expertise.
VASCERN includes 5 Rare Diseases Working Groups (RDWGs):
- Heritable Thoracic Aortic Diseases (HTAD-WG)
- Hereditary Haemorrhagic Telangiectasia (HHT-WG)
- Medium Sized Arteries (vascular Ehlers Danlos) (MSA-WG)
- Pediatric and Primary Lymphedemas (PPL-WG)
- Vascular Anomalies (VASCA-WG)
The specific VASCERN Patient Group (ePAG) enables Patient representatives to work on common issues and to be
involved in all activities.
In addition, several transversal Working Groups work on eHealth, Training & Education, Patient Registry,
Ethics, Communication / Dissemination.
Our Action Plan will enable VASCERN to carry on with its work and reinforce its activities with
regard to various Work Packages detailed in this project proposal.
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