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

BMC Pediatrics

Timothy G Barrett⁹  Lisbeth Tranebjærg⁶  Vallo Tillmann³  Richard Sinnott¹  Julia Rohayem^1,10  Véronique Paquis-Flucklinger⁷  Kay Parkinson^1,12  Virginia Nunes^1,11  Wojciech Młynarski^1,13  Susan McCafferty⁸  Pietro Maffei^1,14  Miguel Lopez de Heredia²  Ségolène Aymé⁵  Amy Farmer⁴ 

[1] The University of Melbourne, Level 3, Doug McDonell Building, Parkville VIC 3010, Australia;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;Tartu University Children’s Hospital, Lunini 6, Tartu 51014, Estonia;Birmingham Children’s Hospital, Steelhouse Lane, Birmingham B4 6NH, UK;INSERM - SC11, Platforme Maladies Rares, 96 Rue Didot, Paris 75014, France;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;IRCAN UMR7284 / INSERM U1081 / UNS, UFR Medecine, Universite Nice Sophia-Antipolis, NICE cedex 2 06107, France;National eScience Centre, 246D, Kelvin Building, Glasgow G12 8QQ, UK;School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, Edgbaston, UK;Centrum für Reproduktionsmedizin und Andrologie, WHO Kollaborationszentrum, EAA, Ausbildungszentrum, Universitätsklinikum Münster, Domagkstraße 11, Münster 48149, Germany;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;Alström Syndrome UK, 49 Southfield Avenue, Paignton, S. Devon TQ3 1LH, UK;Department of Paediatrics, Medical University of Lodz, 4 Kosciuszki Avenue, Lodz PL-90-419, Poland;Department of Medicine, Università degli studi di Padova, Via Giustiniani 2, Padua, Italy

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

Others  :  1144569
DOI  :  10.1186/1471-2431-13-130

 received in 2013-01-31, accepted in 2013-07-26,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Farmer et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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