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Winkler, C. ; Haupt, F. ; Heigermoser, M. ; Zapardiel-Gonzalo, J. ; Ohli, J. ; Faure, T. ; Kalideri, E. ; Hommel, A.* ; Delivani, P.* ; Berner, R.* ; Kordonouri, O.* ; Roloff, F.* ; von dem Berge, T.* ; Lange, K.* ; Oltarzewski, M.* ; Glab, R.* ; Szypowska, A.* ; Snape, M.D.* ; Vatish, M.* ; Todd, J.A.* ; Larsson, H.E.* ; Ramelius, A.* ; Kördel, J.* ; Casteels, K.* ; Paulus, J.* ; Ziegler, A.-G. ; Bonifacio, E.*

Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.

Pediatr. Diabetes 20, 720-727 (2019)
Verlagsversion Postprint Forschungsdaten DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Primary prevention of type 1 diabetes (T1D) requires intervention in genetically at-risk infants. The Global Platform for the Prevention of Autoimmune Diabetes (GPPAD) has established a screening program, GPPAD-02, that identifies infants with a genetic high risk of T1D, enrolls these into primary prevention trials, and follows the children for beta-cell autoantibodies and diabetes. Genetic testing is offered either at delivery, together with the regular newborn testing, or at a newborn health care visits before the age of 5 months in regions of Germany (Bavaria, Saxony, Lower Saxony), UK (Oxford), Poland (Warsaw), Belgium (Leuven), and Sweden (Region Skane). Seven clinical centers will screen around 330 000 infants. Using a genetic score based on 46 T1D susceptibility single-nucleotide polymorphisms (SNPs) or three SNPS and a first-degree family history for T1D, infants with a high (>10%) genetic risk for developing multiple beta-cell autoantibodies by the age of 6 years are identified. Screening from October 2017 to December 2018 was performed in 50 669 infants. The prevalence of high genetic risk for T1D in these infants was 1.1%. Infants with high genetic risk for T1D are followed up and offered to participate in a randomized controlled trial aiming to prevent beta-cell autoimmunity and T1D by tolerance induction with oral insulin. The GPPAD-02 study provides a unique path to primary prevention of beta-cell autoimmunity in the general population. The eventual benefit to the community, if successful, will be a reduction in the number of children developing beta-cell autoimmunity and T1D.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Beta-cell Autoantibodies ; Genetic Risk For Type 1 Diabetes ; Type 1 Diabetes; Autoantibodies; Children
ISSN (print) / ISBN 1399-543X
e-ISSN 1399-5448
Zeitschrift Pediatric Diabetes
Quellenangaben Band: 20, Heft: 6, Seiten: 720-727 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort 111 River St, Hoboken 07030-5774, Nj Usa
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Diabetes Research Type 1 (IDF)