View clinical trials related to Neonatal Diabetes.
Filter by:The aim of this feasibility laboratory study is to evaluate whether the laboratory testing pathway for glucose screening in newborn blood spots (NBS) can be done at scale, and that the glucose test has a carefully established cut-off to define what level glucose is abnormal at day 5 of life. The investigators aim to run this feasibility study for a period of 6 to 12 months to fully embed and test the process. This will equate to assessing glucose levels in approximately 10,000 NBS samples. The results from this study will inform a future large scale prospective screening study.
The study has two aims: 1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection. 2. To discover novel genes whose mutations cause monogenic diabetes misdiagnosed as T1D.
Neonatal diabetes is diagnosed before 6 months of age and causes high blood glucose levels due to the pancreas not secreting insulin. Neonatal diabetes can be caused by a change in a DNA region called the KCNJ11 gene. KCNJ11 encodes a channel in the pancreas that acts as a switch to turn 'on' and 'off' insulin secretion. A change in KCNJ11 results in a faulty channel, which keeps insulin secretion 'switched off'. The diabetes can be treated with tablets called sulphonylureas that switch the pancreatic channel 'on', allowing it to secrete insulin in response to gut hormones called incretins. Previous research has shown that patients who switch from insulin to sulphonylureas have better blood glucose control, including fewer episodes of hypoglycaemia (glucose dropping too low), and also avoid the need for injections. It is thought that serious side effects from sulphonylureas are uncommon in KCNJ11 neonatal diabetes. Some patients report low glucose after meals and we think this may be because they make too much insulin if they eat a meal with protein but low amounts of carbohydrate. The investigators will test this by giving study participants different meals and measuring the amount of insulin, glucose and incretin hormone in the blood afterwards.