FP37-5 Preliminary data from the core dataset of the Euro-WABB Registry

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: FP37-Clinical Pediatric Endocrinology
Monday, June 17, 2013: 10:45 AM-11:15 AM
Presentation Start Time: 11:05 AM
Room 102 (Moscone Center)

Poster Board MON-600
Pietro Maffei*1, Vera Bettini1, Amy Farmer2, Susan McCafferty3, Segolene Aymé4, Wojciech Mlynarski5, Virginia Nunes6, Veronique Paquis7, Kay Parkinson8, Julia Rohayem9, Richard Sinnott10, Vallo Tillmann11, Lisbeth Tranebjćrg12, Francesca Favaretto1, Gabriella Milan1, Roberto Vettor1 and Timothy Barrett13
1Padua University Hospital, Italy, 2Birmingham Children’s Hospital, UK, 3University of Glasgow (NeSC), 4National Institute of Health and Medical Research (INSERM), France, 5Medical University of Lodz (MUL), Poland, 6Fundació Institut Investigació Biomčdica de Bellvitge (IDIBELL), Spain, 7Centre Nationale de la Recherche Scientifique (CNRS), France, 8Alström Syndrome UK (ASUK), 9Children’s Hospital, Technical University Dresden, Dresden, Germany, 10University of Glasgow (NeSC), UK, 11Tartu Univ Children's Hosp, Tartu, Estonia, 12Bispebjerg Hospital & University of Copenhagen, Denmark, 13University of Birmingham, Birmingham, United Kingdom
Objectives: We aimed to develop a Registry for the rare genetic diseases Wolfram (WS), Alström (AS), Bardet-Biedl (BBS) and other diabetes syndromes, containing clinical, genetic diagnostic and outcome data (www.euro-wabb.org). The purpose is to establish the natural history of these diseases, to assess clinical management, to characterize cohorts for future clinical trials, and to establish genotype phenotype relations. This abstract describe the first 111 patients recruited. Methods: Patients with a confirmed diagnosis (clinical or genetic) were recruited from both within and beyond Europe by their physicians. Anonymized data was entered into a secure web-based registry (https://registry.euro-wabb.org/) by a healthcare professional at the recruiting site. Data includes 42 ‘core’ fields agreed by consensus, permitting the differentiation of syndromes and we have analysed prevalence of core clinical symptoms. Genetic information was added in the website using the Leiden Open Variation Database software (LOVD). Results: 111 participants were recruited from 7 EU countries (45 males, 66 females).  The age range was 2 to 54 yrs, median age 15 yrs. There were 50 patients with WS (median age 19, range 4-45  yrs), 29 with AS (17 yrs, range 3-54 yrs), 29 with BBS (9 yrs, median 2-20 yrs). Alongside WS, AS and BBS, 3 patients diagnosed with Wolcott-Rallison (WRS) and with vision and hearing impairment were included. The prevalence of diabetes and median ages of onset were: WS (46/50; 5 yrs); AS (9/29; 15 yrs); BBS (2/29; 13 yrs). The prevalence of obesity and median ages of onset were: WS (1/50; 8 yrs); AS (21/29; 1 yr); BBS (25/29; 1 yr). The prevalence of vision and hearing impairment in WS, AS and BBS were respectively 103/108 (48/50, 29/29, 25/29) and 55/108 (28/50, 21/29, 5/29). Finally 22/29 BBS patients presented with polydactyly. We have also compiled a comprehensive mutation database listing 22 genes associated with WABB and including over 723 unique DNA variants. All these data are now freely available at: https://lovd.euro-wabb.org. Conclusions: The EU Registry allowed us to capture sufficient data to differentiate these rare genetic diseases. Increasing the number of patients and recruitment centres will allow us to accurately characterize the phenotype and establish genotype phenotype correlations. These goals will be also achieved through the new consensus extended dataset of 400 fields.

Nothing to Disclose: PM, VB, AF, SM, SA, WM, VN, VP, KP, JR, RS, VT, LT, FF, GM, RV, TB

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

Sources of Research Support: Executive Agency for Healthand Consumer, EURO-Rare diabetes, agreement number 201012 05