Understanding beta cell disorders through study of rare genotypes V1
Research type
Research Study
Full title
Understanding beta cell disorders through the study of rare genotypes (ENDURE)
IRAS ID
340277
Contact name
Andrew T Hattersley
Contact email
Sponsor organisation
University of Exeter
Duration of Study in the UK
4 years, 11 months, 31 days
Research summary
The human body needs sugar for energy, but too much or too little sugar in the blood is bad for us. To control the amount of sugar in the blood, a molecule called insulin is made by specialised beta cells in the pancreas. In diabetes, beta cells don’t make enough insulin which causes high blood sugar levels. In hyperinsulinism, they make too much insulin leading to very low blood sugar levels. Over time, these disorders can lead to serious health problems.
The overarching aim of the ENDURE study is to understand how DNA variants cause beta cell disorders. The exact study aims and procedures will vary depending on the specific genetic variant to allow us to determine one or more of the following aims:
a) to gain a better understanding of the underlying mechanism(s) that:
- lead to beta cells not functioning correctly.
- result in the destruction of beta cells by immune cells.
b) to gain better understanding of how specific beta cell disorders affect physiology (how the body functions).We wish to compare how people with a specific genetic change differ from individuals without this change. Study participants will provide consent and donate blood samples for us to do specialist analyses to understand the consequence of the genetic variant. Additionally, depending on the person’s genetic variant, they will be invited to take part in additional study procedures such as, Magnetic Resonance Imaging (MRI), to improve understanding of how the reduced insulin secretion affects the body. In some instances, we may recruit ‘healthy control’ participants to identify differences.
The overall outcome of our research will be to improve understanding of how beta cells work. We hope that the insights from this research may lead to new ways to treat and/or improve the lives of people living with beta cell.REC name
North West - Greater Manchester East Research Ethics Committee
REC reference
24/NW/0117
Date of REC Opinion
20 May 2024
REC opinion
Further Information Favourable Opinion