Winkler, Christiane; Haupt, Florian; Heigermoser, Martin; Zapardiel-Gonzalo, Jose; Ohli, Jasmin; Faure, Theresa; Kalideri, Evdokia; Hommel, Angela; Delivani, Petrina; Berner, Reinhard; Kordonouri, Olga; Roloff, Frank; Berge, Thekla von dem; Lange, Karin; Oltarzewski, Mariusz; Glab, Ryszard; Szypowska, Agnieszka; Snape, Matthew D.; Vatish, Manu; Todd, John A.; Larsson, Helena E.; Ramelius, Anita; Kordel, Jeanette A.; Casteels, Kristina; Paulus, Jasmin; Ziegler, Anette G.; Bonifacio, Ezio; Guendert, Melanie; Arnolds, Stefanie; Assfalg, Robin; Barz, Corinna; Blasius, Karina; Gezginci, Cigdem; Falk, Cordula; Hasford, Jörg; Hoefelschweiger, Bianca; Hoffmann, Verena; Jolink, Manja; Kwarteng, Nana; Lickert, Ramona; Matzke, Claudia; Niewoehner, Rebecca; Ott, Michaela; Ruile, Peter; Scholz, Marlon; Schuette-Borkovec, Katharina; Taulien, Mira; Wendel, Lorena; Wystub-Lis, Katharina; Gonzalo, Jose Maria Zapardiel; Smeets, Goele; Morobe, Hilde; Van Heyste, Renka; Achten, Sophie; Lariviere, Emma; Houben, Janne; Marcelis, Lionel; Regal, Luc; Ceglarek, Uta; Dietz, Sevina; Fuchs, Yannick; Gemulla, Gita; Gottschalk, Manja; Heinke, Sophie; Karasinsky, Anne; Kowal, Susann; Lander, Fabian; Morgenstern, Robert; Nitzsche, Katharine; Schlee, Bianca; Stopsack, Marina; Weigelt, Marc; Wimberger, Pauline; Zielmann, Marie-Luise; Zubizarreta, Nicole; Biester, Torben; Danne, Thomas; Janzen, Nils; Holtkamp, Ute; Marquardt, Erika; Semler, Kerstin; Achenbach, Peter; Bunk, Melanie; Gavrisan, Anita; Gestrich, Katharina; Graetz, Willi; Heim-Ohmayer, Pascale; Herbst, Melanie; Hirte, Julia; Hofelich, Anna; Kraus, Cornelia; Kriesen, Yvonne; Ramminger, Claudia; Schairer, Jennifer; Wittich, Susanne; Zillmer, Stephanie; Dybkowska, Sylwia; Dzygalo, Katarzyna; Groele, Lidia; Dluzniak-Golaska, Karolina; Owczarek, Dorota; Popko, Katarzyna; Skrobot, Agnieszka; Taczanowska, Anna; Zdunczyk, Beata; Larsson, Helena Elding; Lundgren, Markus; Lernmark, Ake; Agardh, Daniel; Kordel, Jeanette Akerstrom; Aronsson, Carin Andren; Bennet, Rasmus; Brundin, Charlotte; Fors, Annika; Fransson, Lina; Jonsdottir, Berglind; Jonsson, Ida; Mestan, Zeliha; Amboh, Evelyn Tekum; Torn, Carina; Snape, Matthew; Bendor-Samuel, Owen; Bland, James; Choi, Edward; Craik, Rachel; Davis, Kimberly; de la Horra, Arancha; Farooq, Yama; Scudder, Clare; Smith, Ian; Willis, Louise und Wishlade, Tabitha
(2019):
Identification of infants with increased type 1 diabetes genetic risk for enrollment into Primary Prevention Trials-GPPAD-02 study design and first results.
In: Pediatric Diabetes, Bd. 20, Nr. 6: S. 720-727
Volltext auf 'Open Access LMU' nicht verfügbar.
Abstract
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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