The vision is to make European health services more supportive for affected people with WABB disorders, to reduce morbidity and premature mortality, and to improve quality of life. The general objective of this project is to support efficient diagnosis, treatment, and research for the overlapping rare genetic disorders Wolfram, Alström and Bardet Biedl syndromes, and other rarer syndromes, in Europe. We will achieve this by implementing an EU registry for WABB and other rare syndromes, containing clinical, genetic diagnostic and outcome data. The purpose of the registry is: a) to establish the natural history of the 3 main disorders (their characteristics, management and outcomes); b) to assess clinical effectiveness of management and quality of care; c) to provide a cohort of affected people interested in being recruited to intervention studies of new treatments; 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 is a collaborative effort to establish open and accessible data collection and maintenance.
Main Scientific Objectives
To review the barriers to physicians submitting data to an EU Registry, in 20 representative centres across the EU; and identify their support requirements for submitting data to the Registry (WP-2).
To determine the data elements that will constitute the core and member state specific extended datasets for WABB diseases, that will conform to professional standards and to international nomenclature, and be coded in standard formats (WP-4).
To develop prototypes for the EURO-WABB registry, making them available to the partners for evaluation and refinement of procedures, and road-testing with client groups of health professionals (WP-6).
To identify and catalogue all the mutations (published and unpublished) in the WABB genes to inform the development of a molecular diagnostic service network between EU genetic testing laboratories (WP-5).
To assess the information needs of 60 patients/carers (20 for each disease) to inform the development of FAQs, and the learning needs of 20 health professionals to develop educational material for WABB disorders (WP-2).
- To develop educational material for health professionals and information for client groups, with multilevel forum functionalities for patient, experts, and interactions between the two (WP-4).