ICEECE2012 Poster Presentations Paediatric endocrinology (47 abstracts)
The EURO-WABB project
P. Maffei 1 , A. Farmer 2 , G. Milan 1 , F. Favaretto 1 , V. Bettini 1 , S. Aymé 3 , M. de Heredia 4 , S. McCafferty 5 , W. Mlynarski 6 , V. Nunes 4 , K. Parkinson 7 , V. Paquis 8 , R. Sinnott 5 , V. Tillman 9 , R. Vettor 1 & T. Barrett 10
1Padua University Hospital, Padua, Italy; 2Birmingham Children’s Hospital, Birmingham, UK; 3INSERM, Paris, France; 4IDIBELL, Barcelona, Spain; 5University of Glasgow, Glasgow, UK; 6Medical University of Lodz, Lodz, Poland; 7Alstrom Syndrome UK, Paignton, UK; 8CNRS, Nice, France; 9University of Tartu, Tartu, Estonia; 10University of Birmingham, Birmingham, UK.
Introduction: EURO-WABB is a European research project within the field of rare diabetes diseases. The general objective is to support efficient diagnosis, treatment and research for the overlapping rare genetic diseases Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes.
Methods: The project is supported by the EU DG-SANCO by the collaboration of 8 Associated Partners (AP) and 15 Collaborating Partners. University of Birmingham work as the Project Leader (TB) and coordinating centre. A web-platform was launched in 2011 (www.euro-wabb.org) and a virtual registry will be soon available.
Results: Key achievements of the project are yet on the ground and include: i) coordination: Project Management and Scientific Advisory Committee established; ii) dissemination: awareness raising through conference attendance and development of multi-language website; iii) evaluation: regular conference calls with AP to monitor project progress; iv) core datasets: core and extended dataset agreed in September 2011; 44+370 data fields respectively; phenotyping information standardised used ICD-10 and ESPE classification coding systems; v) genetics: mutation database completed for ALMS1, WFS1, SLC19A2 and EIF2AK3; vi) Virtual Registry and Information Environment: prototype core dataset registry developed for testing in November 2011. First recruitment of patients started in August 2011 and local Ethical Committee approval was obtained in UK, Italy and Poland. In the period from 20th June–2nd January 2012, 2814 visits from 73 countries accessed the website (2295 from EU). Actually, 22 people have formally registered and include a mix of patients, families, clinicians and other interested parties.
Conclusion: EURO-WABB is a new reality in the world of rare diseases. By the virtual registry and the website it will be possible in the next future to address the main topics of this project. Next milestones will include the publication of consensus management guidelines, diagnostic criteria, health professional education and patient information material to support the registry.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This work was supported, however funding details unavailable.
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Endocrine Abstracts
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