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1.
Pediatr Diabetes ; 20(6): 720-727, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31192505

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/prevenção & controle , Testes Genéticos , Seleção de Pacientes , Prevenção Primária/métodos , Autoanticorpos/genética , Autoimunidade/genética , Diabetes Mellitus Tipo 1/diagnóstico , Europa (Continente) , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Ilhotas Pancreáticas/imunologia , Masculino , Triagem Neonatal , Polimorfismo de Nucleotídeo Único , Dados Preliminares , Projetos de Pesquisa , Fatores de Risco
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