NEWBIE 1
Research type
Research Study
Full title
Establishing the diagnostic accuracy of blood spot glucose to detect hyper/hypoglycaemia at day five of life in patients diagnosed with neonatal diabetes or congenital hyperinsulinism\n\n
IRAS ID
231904
Contact name
Timothy McDonald
Contact email
Sponsor organisation
RD&E NHS FT
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Neonatal Diabetes Mellitus (NDM) and Congenital Hyperinsulinism (CHI) are rare diseases diagnosed in the first 6 months of life. They are caused by mutations (mistakes) in the genes responsible for insulin production, leading to either too little insulin (NDM) causing too high blood sugar (hyperglycaemia), or too much insulin (CHI) leading to low blood sugar levels (hypoglycaemia). Both can lead to devastating physical and developmental problems and sometimes even death. They may not be recognised till the blood sugar is either so high or so low that the baby becomes severely ill, and has to be admitted to hospital. This can happen anytime within the first 6 months of life. Many 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 these rare conditions 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 or CHI. 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 spot blood sample is used to screen for a range of rare disease to allow early detection and treatment: this is the obvious time to also screen for NDM and CHI. Having developed and tested a way of measuring blood glucose form a single blood-spot we now need to take the next step and see how good the test could be by testing it in the stored 5 day blood spot samples of children who went on to be diagnosed with NDM and CHI and seeing how accurate the results are.
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
18/SW/0070
Date of REC Opinion
17 Apr 2018
REC opinion
Further Information Favourable Opinion