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

Recruiting now

Conditions studied: Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism

In brief

This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences. Eligible individuals are those with and without a pathogenic genetic variant, acting as case and control, respectively. Using a "recruit by genotype" approach, the researchers will perform detailed and specific analysis according to the individual's genetic variant. The study's main aims are to : 1) identify and describe biomarkers and cellular features in blood samples that occur because of the rare causal genetic variant; 2) study the altered physiology or cellular function that are due to the rare causal genetic variant. Participants will attend a study visit that will entail: * Consent * Data collection * Height and weight measures * Blood samples * MRI (optional), dependent on genotype and sub-study objectives. There is no treatment and the participants' normal clinical care will be unaffected and will continue uninterrupted. A small subset of participants may be invited for further sub-studies in the future. Researchers may recruit sex-matched healthy controls (without the variant of interest) with similar age and BMI (age: +/-15%, BMI: +/- 3 kg/m2) for specified case-control studies.

Key facts

Study ID

NCT06478121

Run by

University of Exeter

People needed

50

Starts

2025-11-11

Expected to finish

2029-02-28

Last updated by the study team

2026-01-16

Who can join

Age: 6 and older, up to 99. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Mental capacity to give informed consent
• Of any sex, ethnicity, location.
• Group 1: Cases will have a genetic variant(s) resulting in a beta cell disorder.
• Group 2: Controls will not have a genetic variant(s) resulting in a beta cell disorder and will be matched to a Case for sex, age (+/- 15%) and BMI (+/- 3 kg/m2).

You may not qualify if…

• Lack of mental capacity to give informed consent
• Age <6 years; >99 years
• Additional exclusions for MRI assessments:
• Cochlear Implant
• Aneurysm Clips
• Neurological stimulator
• Implanted cardiac devices (ICD, PPM, loop recorders, or any others)
• Metal heart valve
• History of metal foreign bodies in orbits
• Other implanted metal device which prevents MRI
• Known claustrophobia.

Where it is running

• Royal Devon University Healthcare NHS Foundation Trust — Exeter, Devon, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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