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

EURO-WABB An EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome . Prof. Timothy Barrett Euro-WABB Project Leader Ms. Amy Farmer Euro-WABB Project Manager. www.euro-wabb.org Euro-wabb@bch.nhs.uk. The Problem: Different combinations of symptoms.

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

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  1. EURO-WABBAn EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome • Prof. Timothy Barrett • Euro-WABB Project Leader • Ms. Amy Farmer • Euro-WABB Project Manager www.euro-wabb.org Euro-wabb@bch.nhs.uk

  2. The Problem:Different combinations of symptoms Isolated vision impairment Common diabetes Non-syndromic deafness Vision loss Diabetes Hearing loss • WARNING !!! • Failure to diagnose patterns • Too rare for doctors to learn • Little or no research • Inadequate patient information • Failure to treat properly • WARNING!!! Cardiomyopathy Obesity Common obesity Isolated cardiomyopathy Rare Disease Day 2012 - Rare but Strong Together

  3. Project OverviewInitiated by MdmNolwenJaffre Association syndrome de Wolfram • Funded by the European Union in the Framework of the Health Programme (contract ref: 2010-12-05) • 3 year project which began on 01/01/2011 • 9 Associate Partners across Europe • European Rare Diseases Registry collecting clinical and diagnostic data • Wolfram, Alström and Bardet-Biedl (WABB) syndromes and other syndromes such as Wolcott-Rallison and Thiamine-Responsive Megaloblastic Anaemia (TRMA) • Project activities divided into 6 work packages: coordination, dissemination, evaluation; genetics, clinical guidelines, and rare disease European Registry

  4. The WABB diseases Wolfram Childhood diabetes, optic atrophy, deafness, neuro-degeneration Alström Obesity, retinal dystrophy, deafness, often cardiomyopathy and diabetes Bardet-Biedl Obesity, retinal dystrophy, deafness, often diabetes, polydactyly, cystic kidneys Plus: Wolcott-Rollison syndrome Roger’s syndrome Other even rarer syndromes

  5. ObjectivesTo support efficient diagnosis, treatment, and research for WABB diseases in Europe • To identify barriers to doctors using an EU-wide registry • To agree data to collect on each rare disease • To develop and road test a web based registry • To identify and catalogue all mutations for each disease and genotype/phenotype correlations • To assess patient information /professional learning needs • To write information for patients/professionals Common datasets WHO classification Mutation Database Diagnostic network Information/Education E.g. AS-UK handbook

  6. Description of the project Clinical Partners: take consent from patients to input their data anonymously Patient partners: register themselves, see own data records, input quality of life data EU-WABB Registry 300 anonymised patient records: medical, genetic, investigations, quality of life. State of the art security Research Partners: Regulated access to data Platform for clinical trials No direct access to patients Outputs: Genetic testing network Natural history of WABB diseases Evidence based patient information Learning materials for health professionals

  7. Value added of collaborating across Europe • Value added: • Network of genetic testing laboratories • Critical mass to enable high quality research • Patient numbers for clinical trials • Quicker progress to new treatments for these diseases • Sharing of best practice • Health professionals and Patient support groups working as partners Wolfram syndrome UK

  8. Collaborative Links & Expressions of Interest

  9. Genetics Identify and catalogue mutations (published & unpublished) in the RDS genes • Leiden Open source Variation • Database (LOVD) software • Current variants 1017, of which • 358 are unique variants.

  10. Supporting Equal Access to Genetic Testing W W West Midlands Regional Genetics Lab, UK Antwerp University Hospital, BELGIUM WABB Diagnostic Laboratories A W CHU Nice, FRANCE O O Royal Devon and Exeter NHS Trust, UK W Radboud University, Nijmegen Medical Centre, Netherlands A B B North East Thames Regional Molecular Genetics Laboratory, UK W Medical University of Lodz, Poland A A University of Padua, ITALY A Universidad de Vigo, SPAIN

  11. EURO-WABB Registry https://registry.euro-wabb.org • Web-based data collection undertaken by local clinician with input from patient or parent/guardian

  12. Ethics: extract from UK form

  13. Data Collection Form • 44 Data fields in the Core dataset • 370 data fields in the Extended dataset • Capturing clinical and molecular genetic features • Onset of Symptoms • Phenotyping information • Standardised using ICD-10 and ESPE Classification coding systems

  14. Selecting ‘Yes’ for a particular symptom prompts for further detail (ICD-10 code) and age of onset of symptoms

  15. Local Participants

  16. Current Recruitment • Ethical approvals in place in Poland, Italy, Spain, Estonia and the UK • Ethics applications underway in Germany, Denmark and France • Collaborative links established with further sites keen to take part • Total Registry Participants: 81

  17. Acknowledgements: EURORDIS Mme. NolwenJaffre Associate Partners www.euro-wabb.org Thank you

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