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

Research output: Contribution to journalArticle

Authors

  • Amy Farmer
  • Ségolène Aymé
  • Miguel De Heredia
  • Pietro Maffei
  • Susan Mccafferty
  • Wojciech Młynarski
  • Virginia Nunes
  • Kay Parkinson
  • Véronique Paquis-flucklinger
  • Julia Rohayem
  • Richard Sinnott
  • Vallo Tillmann
  • Lisbeth Tranebjærg

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.

Details

Original languageEnglish
Article number130
JournalBMC Pediatrics
Volume13
Issue number1
Publication statusPublished - 27 Aug 2013

Keywords

  • Wolfram, Alström, Bardet-Biedl, Diabetes, Patient registries, Rare diseases