DAISIE
Research type
Research Study
Full title
Neonatal Diabetes in Sudden Infant Death
IRAS ID
283497
Contact name
Timothy McDonald
Contact email
Sponsor organisation
Royal Devon and Exeter NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Research Summary
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. It may not be recognised until the blood sugar level is so high that the baby becomes severely ill and is admitted to hospital. 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 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.For a new screening test to be considered for implementation as part of the new-born screening programme, there is a requirement to show that making the diagnosis will prevent avoidable complications or death in a cost-effective manner. The next step to achieving this requirement is to determine if infants are dying from unrecognised NDM, to do this we will investigate the prevalence of NDM in cases of unexplained sudden infant death.
Summary of Results
The aim of the DAISIE Study was to determine the frequency of undiagnosed Neonatal Diabetes Mellitus (NDM) in sudden infant death. In order to do this, we carried out genetic testing of tissue samples, collected from infants, who had died from sudden infant death.
The characteristics of the infants tested is shown below.
Characteristics of infants tested
N=97
Sex
Female 35
Male 62
Post-natal Time of death (days)
Median 56
Range (0-273.8)97 infants aged between 0 and 273 days old at time of death were included in the study. There was an increased number of males in the group, which could be expected, as sudden infant death is more common in males.
DNA was removed from the tissue samples and looked at to find out whether we could identify changes in genes known to cause neonatal diabetes.
In the group we looked at, we did not find an infant with neonatal diabetes. Therefore, undiagnosed neonatal diabetes is not a common cause of sudden infant death.REC name
West of Scotland REC 3
REC reference
20/WS/0134
Date of REC Opinion
1 Oct 2020
REC opinion
Favourable Opinion