The general objective of this project is to support efficient diagnosis, treatment, and research for the overlapping rare genetic diseases Wolfram, Alstrom and Bardet Biedl syndromes and other rarer diabetes syndromes in Europe. We will achieve this by implementing an EU registry for Rare Diabetes Syndromes (RDS), containing clinical, genetic diagnostic and outcome data. The purpose of the registry is: a) to establish the natural history of RDS (their characteristics, management and outcomes); b) to assess clinical effectiveness of management and quality of care; c) to provide an inventory of patients for recruitment to intervention studies; d) to establish genotype-phenotype correlations. We will achieve high usage of the registry by linking it to rapid genetic testing; and to up to date, accurate information, FAQS, and education material.
This supports equal access to genetic testing, education of health professionals, and empowerment of patients. (Council Recommendation on rare diseases); adequate inventorying of RDS diseases (Section II); supporting research (Section III); development of centres of expertise (Section IV); gathering expertise at European level (section V); empowering patient organizations as partners (Section VI); developing sustainability by underpinning a future European Reference Network for RDS diseases (Section VII); supporting the High Level Pharmaceutical Forum Recommendations (2008); and supporting improvement in health outcomes, a key Lisbon Strategy indicator. The contribution to the programme is through: a) increased knowledge on these rare diseases by pooling together data on larger number of patients; b) support for research by allowing access to investigators for epidemiological, clinical, genetic and interventional studies; c) effective dissemination of results via Orphanet; d) advocacy for improved quality of services via EURORDIS; e)balanced participation.
Methods and means. We will use validated, quantitative questionnaires and focus groups of health professionals, to scope the support requirements of centres for submitting data to the Registry. We will develop a consensus on a core dataset for the Registry, then develop a multifunctional web based Registry with user friendly browser-based access. We will create a RDS microarray capable of identifying up to 600 different mutations. We will undertake quantitative questionnaires and focus groups for patients and health professionals to compile their learning and information needs; write education material and patient information on RDS diseases, and use it to support `meet the expert` platforms, and fora for client groups.
Expected outcomes. There will be a step change in volume and quality of clinical research in RDS diseases. The registry will be also be transferable to scientists exploring the mechanisms underlying common diabetes and obesity. This will change our understanding of these rare diseases through increased knowledge of the natural history and genotype phenotype relations informing prognosis. RDS diseases will have increased visibility to the research and health provider communities through Orphanet and EURORDIS. There will be a change in clinical effectiveness of services for RDS patients. The registry will provide data for assessing the clinical effectiveness and cost-effectiveness of standard care and new interventions in a real-world setting. This will lead to improvements in quality of care. The Registry will identify disparities between health care outcomes and provide evidence for health service providers for improvements.