title: EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
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.
authors: School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, Edgbaston, UK. T.G.Barrett@bham.ac.uk.
authors: Amy
authors: A
authors: Farmer
authors: Ségolène
authors: S
authors: Aymé
authors: Miguel Lopez
authors: ML
authors: de Heredia
authors: Pietro
authors: P
authors: Maffei
authors: Susan
authors: S
authors: McCafferty
authors: Wojciech
authors: W
authors: Młynarski
authors: Virginia
authors: V
authors: Nunes
authors: Kay
authors: K
authors: Parkinson
authors: Véronique
authors: V
authors: Paquis-Flucklinger
authors: Julia
authors: J
authors: Rohayem
authors: Richard
authors: R
authors: Sinnott
authors: Vallo
authors: V
authors: Tillmann
authors: Lisbeth
authors: L
authors: Tranebjaerg
authors: Timothy G
authors: TG
authors: Barrett
mesh_terms: D000293:Adolescent; D000328:Adult; D056769:Alstrom Syndrome; D020788:Bardet-Biedl Syndrome; D002648:Child; D002675:Child, Preschool; D019992:Databases as Topic; D005062:European Union; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007391:International Cooperation; D008297:Male; D035583:Rare Diseases; D012042:Registries; D012107:Research Design; D014929:Wolfram Syndrome
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