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Title: EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome
Author: Farmer, Amy
Aymé, Ségolène
López de Heredia, Miguel
Maffei, Pietro
McCafferty, Susan
Młynarski, Wojciech
Nunes Martínez, Virginia
Parkinson, Kay
Paquis-Flucklinger, Véronique
Rohayem, Julia
Sinnott, Richard
Tillmann, Vallo
Tranebjærg, Lisbeth
Barrett, Timothy G.
Keywords: Malalties rares
Estadística mèdica
Monitoratge de pacients
Bases de dades web
Rare diseases
Medical statistics
Patient monitoring
Web databases
Issue Date: 27-Aug-2013
Publisher: BioMed Central
Abstract: Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. Methods: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. Conclusions: the registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.
Note: Reproducció del document publicat a:
It is part of: BMC Pediatrics, 2013, vol. 13, p. 130
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ISSN: 1471-2431
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Fisiològiques)

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