PROJECT FREDER1K STUDY IN SAXONY
The Freder1k study: Early detection of the risk of developing type 1 diabetes
What is type 1 diabetes?
Type 1 diabetes is an autoimmune disease. This means that your immune system, which primarily serves to defend the body against germs, attacks and destroys the insulin-producing cells in the pancreas. As a result, your body is unable to produce insulin. Insulin is a hormone that allows glucose from food to pass from your blood into your cells, which need it to produce energy. When there is an insulin deficiency, the glucose accumulates in your blood. This is why people with type 1 diabetes need insulin injections to prevent health problems from occurring due to high blood glucose levels.
What does the screening test to identify the risk of developing type 1 diabetes mean?
Type 1 diabetes primarily occurs in individuals who have certain high-risk genes. Approximately 3% or 30 out of every 1,000 children have high-risk genes for type 1 diabetes. Blood (DNA) testing for these genes is offered along with the standard newborn screening tests. If your child has type 1 diabetes high-risk genes, we recommend having your child tested for islet autoantibodies at six months, two years and four years of age. Islet autoantibodies are a sign of inflammation of the insulin-producing cells in the pancreas; they can be detected in the blood years before the onset of insulin deficiency and increased blood glucose levels. Islet autoantibodies usually appear before the age of four. For every 1,000 children with high-risk genes, about 50 of these children will test positive for islet autoantibodies, indicative of early stage type 1 diabetes, by their fourth birthday. If no islet autoantibodies are found by the child’s fourth birthday, then the risk of developing diabetes is very low, in spite of the high-risk genes identified.
Who can have the test?
The screening test for the risk of developing diabetes is available to all children in Saxony. It can be carried out quickly, safely and easily along with the standard newborn screening tests performed on the second and third day of life, or at one of your baby’s check-ups (U2 or U3), or at any other visit to your paediatrician. Every child can have the test.
What are the advantages of having the test?
Most people with type 1 diabetes develop the disease in childhood. If the screening test shows that your child has high-risk genes for type 1 diabetes, we will invite you to bring your child for additional tests at six months, two years and four years of age. If your child develops an early stage of type 1 diabetes, the tests will enable this to be diagnosed in good time so that your child can receive the best possible care and treatment from the outset. This enables the prevention of life-threatening hyperglycaemia, which can develop relatively quickly and without warning. We provide detailed information and advice to affected children and parents. There are also studies that aim to prevent progression of the disease. Families who are interested in these will have the opportunity to participate.
Do I have to pay for the screening test?
No. The screening test is free of charge. It is funded as part of the research project.
How is the blood collected?
The screening test for diabetes should ideally be carried out along with the standard newborn screening tests. The doctor will take a few drops of blood from the baby’s heel. The blood sample is collected on specimen collection paper, so that it can be tested. There is no danger or risk to you child from the procedure. The collection of blood could lead to a small bruise, swelling, or infection, but the risk of infection is very low.
How will I find out if my child is affected?
If your child has high-risk genes for type 1 diabetes, you will be contacted within 12 weeks of the test by the paediatrician at Technische Universität Dresden (Dresden Screening Laboratory) or Leipzig University (Leipzig Screening Laboratory) or the Center for Regenerative Therapies Dresden (CRTD), and offered follow-up testing.
What does a diagnosis of an ‘early stage of type 1 diabetes’ mean?
If your child’s blood tests positive for islet autoantibodies at six months, two years or four years of age, we refer to this as an early stage of type 1 diabetes. Most children who are at an early stage of the disease do not have any symptoms. They feel perfectly healthy and there is no risk to their health at this time. If your child is diagnosed as being at an early stage of type 1 diabetes, we will discuss what to do next with you as affected parents, as well as with your paediatrician, and support you through this situation. The affected child’s metabolism is monitored carefully and regularly. You will be given detailed advice and training and an individual care plan for your child. Regular check-ups will be carried out to determine if and when your child should begin insulin treatment if they develop type 1 diabetes. Children with an early stage of type 1 diabetes also have the opportunity to participate in studies that aim to prevent progression of the disease. We provide affected families with advice and practical support. If you need any information or assistance, you can call us on our freephone number to discuss your questions or concerns: 0800 – 828 4868 (available in Germany only).
What happens to my data?
The results of the screening test for the risk of developing diabetes are subject to medical confidentiality and data protection requirements, which are strictly upheld. Your child’s results and personal data are transmitted to the paediatrician who carried out the test, the Saxony Screening Centre, the Institute of Diabetes Research, Helmholtz Zentrum München and the Center for Regenerative Therapies (CRTD), Technische Universität Dresden. Your child’s test results and all other data collected as part of the screening are stored in pseudonymous form, i.e. without identification by name, for scientific and statistical purposes. The specimen collection papers with the blood samples are only stored until the result of the test is available, and after this they are destroyed.
Is it possible to prevent the progression of type 1 diabetes?
There are a number of innovative treatment strategies to prevent the progression of the disease, such as ‘vaccination’ against type 1 diabetes. These are currently being tested and conducted as part of clinical studies. Families who are interested in these options have the opportunity to participate in these studies.