The pilot phase of the freder1k study: type 1 diabetes risk screening in saxony

The Global Platform for the Prevention of Autoimmune Diabetes (GPPAD; www.gppad.org) is a network of collaborating investigators from five European countries. The embedded Freder1k-study started as a pilot in Saxony to assess testing of the genetic risk to develop type 1 diabetes through the general newborn screening infrastructure. 26 obstetric hospitals participated in consenting families for genetic testing of their newborns for single nuclear polymorphisms associated with type 1 diabetes susceptibility. Feasibility was set at 5000, and was exceeded with 8107 children tested in 12 months. The overall frequency of participation from all births in the participating clinics was 65.5% (range, 57%- 74%). Of those tested, 203 (2.5%) were identified with an expected 5 – 10% risk of developing type 1 diabetes. All 203 were contacted and 82 were enrolled into a follow-up study testing for islet autoantibodies at age 6 months, 2 years, and 4 years. In total, 81 have had their 6 month follow-up, and 19 their 2 year follow-up. None of these have developed islet autoantibodies. Families were monitored for the psychological impact using a standardized questionnaire, none of the parents required additional support, suggesting that the study did not generally cause depression or anxiety. The Freder1k pilot phase showed feasibility and acceptance of early diabetes diagnosis alongside the newborn screening. It has been expanded to other GPPAD sites to recruit children into a trial that tests the efficacy of oral insulin therapy to prevent type 1 diabetes (POInT – primary oral insulin trial EudraCT: 2017 – 003088 – 36).