BSPED2012 Poster Presentations (1) (66 abstracts)
The Euro-WABB Registry: differences in prevalence of diabetes between Wolfram, Alstrom, and Bardet-Biedl syndromes
Amy Farmer 2 , Segolene Ayme 3 , Pietro Maffei 4 , Susan Mccafferty 5 , Richard Sinnott 5 , Wojciech Mlynarski 6 , Virginia Nunes 7 , Veronique Paquis 8 , Kay Parkinson 9 , Vallo Tillman 10 & Timothy Barrett 1
1University of Birmingham, Birmingham, UK; 2Wellcome Trust Clinical Research Facility, Birmingham Children’s Hospital, Birmingham, UK; 3National Institue of Health and Medical Research (INSERM), Paris, France; 4Università degli Studi di Padova, Padova, Italy; 5University of Glasgow, Glasgow, UK; 6Medical University of Lodz, Lodz, Poland; 7Fundació Institut Investigació Biomèdica de Bellvitge, Barcelona, Spain; 8Centre National de la Recherche Scientifique, Nice, France; 9Alstrom Syndrome UK, Paignton, UK; 10University of Tartu, Tartu, Estonia.
Objectives: We aimed to develop a registry for the rare genetic diseases Wolfram (WS), Alstrom (AS), Bardet Biedl (BBS) and other diabetes syndromes, containing clinical, genetic diagnostic and outcome data. 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 describes the first 50 patients recruited.
Methods: Patients with a confirmed diagnosis (clinical or genetic) were recruited from both within and beyond Europe by their physicians. Information was collected for 42 ‘core’ data fields, reached by consensus to differentiate between syndromes. We analysed prevalence of core clinical symptoms including obesity and diabetes.
Results: The age range was 2–44 years (interquartile range 6–20 years). There were 15 patients with WS (median age 18 years (range 9–44 years), 16 with AS (14 years (2–30 years), 17 with BBS (8 years (4–16), 1 with Wolcott-Rollison and 1 with vision and hearing impairment of unknown cause. The prevalences of diabetes and median ages of onset were: WS (14/15; 6 years); AS (5/16; 13 years); BBS (2/17; 10 years); P<0.01 for ages of onset WS vs AS and BBS combined). The prevalences of obesity and median ages of onset were: WS (2/15; 8 years); AS (12/16; infancy); BBS (16/17; 2 years); P<0.001 for obesity prevalence WS vs AS and BBS combined).
Conclusions: The core dataset captured sufficient data to differentiate between diabetes syndromes. Diabetes mellitus presented before puberty in WS, was not associated with obesity, and is known to be insulin dependent; whereas it presented during puberty in AS and BBS, was associated with obesity, and is insulin resistant. The prevalence of diabetes is low in AS and BBS during childhood. Further patient recruitment and longitudinal data collection will use a consensus extended dataset of 400 fields to accurately characterize the phenotypes.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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