Neonatal Diabetes Mellitus (NDM) is a rare disease diagnosed in the first 6 months of life. The disease is caused by mutations (mistakes) in genes responsible for insulin production. Insulin is a hormone that helps move glucose from the blood into our cells, where it is used as fuel for energy. With too little insulin, the body can no longer move glucose from the bloodstream into our cells, causing high blood sugar (hyperglycaemia), which is harmful to various tissues and organs. NDM can lead to devastating physical and developmental problems and sometimes even death. NDM may not be recognised until the blood sugar level is so high that the baby becomes severely ill and is admitted to hospital. Some infants die, and those that do not may be left with life changing brain damage and needing to be in hospital or institutional care for life.
Key to improving care would be the ability to diagnose NDM as soon as possible. Effective treatment could be started quickly, reducing the serious risks to the infant. Currently, there is no effective screening test to identify babies at risk of developing NDM. We think we can change this. As part of routine care in the UK all babies have a heel-prick blood test at 5-7 days after delivery. This blood spot sample is used to screen for a range of rare diseases to allow early detection and treatment: this is the obvious time to also screen for NDM.
We have developed a way of measuring blood glucose from a single blood spot and we have previously shown that glucose levels in blood spots from day 5 of life in those with NDM is already raised and markedly higher than normal range.
In order for a new screening test to reach a prospective evaluation stage and be considered for implementation as part of the new-born screening programme, we must first ensure that laboratory testing pathway is feasible, and the assay has a carefully established cut-off to define what level glucose is abnormal at day five of life.
