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Anita Ramelius

Biomedical analyst

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

Author

  • Christiane Winkler
  • Florian Haupt
  • Martin Heigermoser
  • Jose Zapardiel-Gonzalo
  • Jasmin Ohli
  • Theresa Faure
  • Evdokia Kalideri
  • Angela Hommel
  • Petrina Delivani
  • Reinhard Berner
  • Olga Kordonouri
  • Frank Roloff
  • Thekla von dem Berge
  • Karin Lange
  • Mariusz Oltarzewski
  • Ryszard Glab
  • Agnieszka Szypowska
  • Matthew D. Snape
  • Manu Vatish
  • John A. Todd
  • Helena E. Larsson
  • Anita Ramelius
  • Jeanette Kördel
  • Kristina Casteels
  • Jasmin Paulus
  • Anette G. Ziegler
  • Ezio Bonifacio

Summary, in English

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 Skåne). 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.

Department/s

  • Paediatric Endocrinology
  • EXODIAB: Excellence of Diabetes Research in Sweden
  • Diabetes and Celiac Unit

Publishing year

2019-09

Language

English

Pages

720-727

Publication/Series

Pediatric Diabetes

Volume

20

Issue

6

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Pediatrics
  • Endocrinology and Diabetes

Keywords

  • beta-cell autoantibodies
  • genetic risk for type 1 diabetes
  • type 1 diabetes

Status

Published

Research group

  • Paediatric Endocrinology
  • Diabetes and Celiac Unit

ISBN/ISSN/Other

  • ISSN: 1399-543X