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Open Access Correspondence

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Amy Farmer1, Ségolène Aymé2, Miguel Lopez de Heredia34, Pietro Maffei6, Susan McCafferty7, Wojciech Młynarski8, Virginia Nunes345, Kay Parkinson9, Véronique Paquis-Flucklinger10, Julia Rohayem11, Richard Sinnott12, Vallo Tillmann13, Lisbeth Tranebjærg1415 and Timothy G Barrett16*

Author Affiliations

1 Birmingham Children’s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK

2 INSERM - SC11, Platforme Maladies Rares, 96 Rue Didot, Paris 75014, France

3 IDIBELL, Hospital Duran i Reynals, 3ª Planta, Gran Via de L’Hospitalet, 199, E-08907- L’Hospitalet de Llobregat, Barcelona, Spain

4 Centro de Investigación en Red de Enfermedades Raras (CIBERER), U-730, Hospital Duran i Reynals,3ª Planta, Gran Via de L’Hospitalet, 199, E-08907-L’Hospitalet de Llobregat, Barcelona, Spain

5 Section of Genetics, Phisiological Sciences II Department, Medicine Faculty of Bell vitge, University of Barcelona, Feixa Llarga, sn. 08907 L’Hospitalet de Llobregat, Barcelona, Spain

6 Department of Medicine, Università degli studi di Padova, Via Giustiniani 2, Padua, Italy

7 National eScience Centre, 246D, Kelvin Building, Glasgow G12 8QQ, UK

8 Department of Paediatrics, Medical University of Lodz, 4 Kosciuszki Avenue, Lodz PL-90-419, Poland

9 Alström Syndrome UK, 49 Southfield Avenue, Paignton, S. Devon TQ3 1LH, UK

10 IRCAN UMR7284 / INSERM U1081 / UNS, UFR Medecine, Universite Nice Sophia-Antipolis, NICE cedex 2 06107, France

11 Centrum für Reproduktionsmedizin und Andrologie, WHO Kollaborationszentrum, EAA, Ausbildungszentrum, Universitätsklinikum Münster, Domagkstraße 11, Münster 48149, Germany

12 The University of Melbourne, Level 3, Doug McDonell Building, Parkville VIC 3010, Australia

13 Tartu University Children’s Hospital, Lunini 6, Tartu 51014, Estonia

14 Department of Audiology, H:S Bispebjerg Hospital, Bispebjerg Bakke 23, Copenhagen, NV DK- 2400, Denmark

15 Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Blegdamsvej 3, DK-Copenhagen N, Denmark

16 School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, Edgbaston, UK

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BMC Pediatrics 2013, 13:130  doi:10.1186/1471-2431-13-130

Published: 27 August 2013

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.

Keywords:
Wolfram; Alström; Bardet-Biedl; Diabetes; Patient registries; Rare diseases