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The EURO-WABB Project

An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes.

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Work Package 4 : Core Datasets and Pathways

Workpackage description

Task 1: Development of the core dataset for the EURO-WABB registry.

We have developed a draft core dataset for the registry, which we will build on to form a consensus dataset. The dataset will include physical, biochemical, imaging and genetic data. There will be a core dataset which will be agreed for existing and developing national and international datasets. There will then be an extended dataset to incorporate research investigations beyond standard clinical tests.

Task 2: Reassessment of existing and potential patients.

We will actively seek reassessment of existing and potential WABB patients using agreed diagnostic criteria. Patients will be offered genetic testing to confirm diagnoses, then counselling and treatment at their local centres. The Virtual Research and Information Environment (VRIE) will support follow up data, where updates to patient conditions and/or treatments can be given and subsequently tracked.

Task 3: Development and refinement of diagnostic criteria.

There are published criteria for diagnosing WABB diseases. We will test and adjust these criteria from evidence gained from the Registry of larger cohorts (up to 200 for each disease). This will allow us to develop a robust evidence base for diagnosis; identify genotype phenotype correlations and produce diagnostic algorithms for genetic testing.

Task 4: Development of management/care pathways, education and information material.

We will audit existing care pathways: service providers will be approached to identify existing service models. For each model, data will be collected through individual case studies, user and carer survey instruments, and focus groups. We will develop consensus referral, care, and management pathways for WABB diseases including the service components required, and indicative costs. In parallel we will develop education and information material for posting on the VRIE.