RecruitingOBSERVATIONAL

Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)

The ENDURE study is trying to understand how tiny changes in our genes affect the special cells in the body (called beta cells) that control our blood sugar. Sometimes, these gene changes can lead to conditions like diabetes (where blood sugar is too high) or hyperinsulinism (where blood sugar is too low). If you have one of these gene changes, or even if you don't but match someone who does (in terms of age, sex, and weight), you might be able to help. We'll collect some information, height and weight, and blood samples. Some people might also have an optional MRI scan. Your usual medical care won't change, and you won't be given any new treatments as part of this study. The goal is to learn more about these conditions to eventually find better ways to help people living with them.

At a glance

Status

Recruiting

Sponsor

University of Exeter

Enrolment target

Start

11 Nov 2025

Estimated completion

28 Feb 2029

Diabetes Mellitus Monogenic Diabetes Hyperinsulinism

What is this study about?

Our bodies need sugar for energy, but it's important to keep the amount of sugar in our blood just right. Special cells in a gland called the pancreas, called beta cells, make a substance called insulin. Insulin helps control our blood sugar. In conditions like diabetes, these beta cells don't make enough insulin, leading to high blood sugar. In another condition called hyperinsulinism, they make too much insulin, causing very low blood sugar. Over time, both too high and too low blood sugar can lead to serious health problems.

For some people with diabetes and most with hyperinsulinism, the problem starts with a tiny 'spelling mistake' in their DNA, which is like our body's instruction manual. This spelling mistake, or 'gene change', affects how their beta cells work. The ENDURE study aims to understand exactly how these gene changes cause problems with beta cells and how they work. We hope that by learning more about this, we can discover new ways to treat these conditions and improve the lives of people who have them.

To do this, we're looking for people who have these specific gene changes, as well as people who don’t have them but are similar in age, sex, and weight. By looking at information and samples from both groups, we can compare them and find out what’s different. This will help us understand what happens at a very detailed level within the body when these gene changes are present.

Key takeaways

The ENDURE study is looking at how specific gene changes affect blood sugar control.
It aims to understand diabetes and related conditions, not provide treatment.
Participation involves one visit with data, blood samples, and possibly an optional MRI.
Your usual medical care will not be interrupted or changed.
You could help future understanding and potential treatments for these conditions.
You can withdraw from the study at any time without it affecting your healthcare.

Who may be eligible?

We are looking for people who are aged 6 to 99 years old and are able to understand and agree to take part in the study. Anyone, regardless of their sex, background, or where they live, can be considered.

There are two main groups of people we are looking for: * **Group 1 (Cases):** These are individuals who have been diagnosed with a problem linked to their beta cells and have a confirmed gene change that causes this problem. * **Group 2 (Controls):** These are individuals who do *not* have the gene change causing a beta cell problem but are similar to someone in Group 1 in terms of their sex, age (within about 15%), and body weight (within about 3 kg/m²).

If you cannot understand and agree to take part, or are under 6 or over 99 years old, you won't be able to join. Additionally, if you might have an MRI scan, there are specific reasons you might not be able to, such as having certain metal implants in your body (like cochlear implants, some heart devices, or aneurysm clips) or if you experience severe claustrophobia.

Quick self-check

Are you between 6 and 99 years old?
Can you understand and agree to take part in a study?
Do you have a known gene change causing a beta cell disorder (or are willing to act as a 'match' for someone who does)?
If an MRI is suggested, do you *not* have certain metal implants or severe claustrophobia?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in the ENDURE study, you will have one main study visit. During this visit, we will first talk you through the study in detail and answer any questions you have so you can give your agreement to take part. We will then collect some information about you, measure your height and weight, and take some blood samples.

Some participants may also be asked to have an optional MRI scan. Whether you have an MRI will depend on your specific gene change and what particular questions the researchers are trying to answer. If an MRI is suggested, we'll first check if it's safe for you to have one. Importantly, this study does not involve any new treatments or medicines, and your usual medical care and appointments will continue as normal, without interruption. A small number of people might be asked if they'd like to take part in additional, smaller studies in the future, but this is entirely optional.

Potential risks and benefits

Taking part in this study won't directly improve your health or provide you with new treatments. However, by understanding more about how gene changes affect beta cells, your participation could help researchers find better ways to diagnose or treat conditions like diabetes and hyperinsulinism in the future, benefiting many others. The main risks involved are minimal, similar to having routine blood tests, which might cause a little bruising or soreness. For those having an MRI, there are no known health risks, but some people might find it slightly uncomfortable or feel anxious in the scanner. You are free to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (1)

Royal Devon University Healthcare NHS Foundation Trust
Exeter, United Kingdom· Recruiting

Common questions

What is a 'beta cell disorder'?

It's a problem with the special cells in your pancreas (called beta cells) that make insulin, which controls your blood sugar. This can lead to too high or too low blood sugar.

Will I receive any new treatment in this study?

No, this study is about understanding diseases, not testing new treatments. Your normal medical care will continue as usual.

What does an MRI involve?

An MRI is a scan that uses strong magnets and radio waves to create detailed pictures inside your body. It is often used to look at organs like the pancreas. It's painless, but can be a bit noisy and you need to lie still.

Will my genetic information be kept private?

Yes, all your personal and genetic information will be kept strictly confidential and anonymous whenever possible to protect your privacy.

What is the main goal of the ENDURE study?

The goal is to understand how specific gene changes affect beta cells and cause disorders like diabetes, hoping to find new ways to help people in the future.

How to find out more

Matthew Johnson, PhD

m.johnson@exeter.ac.uk +44 (0) 1392 408277 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.