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

NCT06478121 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2026-01-16

No results posted yet for this study

Summary

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.

Conditions

Interventions

OTHER

Data and Blood collection

Data and Blood collection

OTHER

MRI

MRI (optional)

Sponsors & Collaborators

  • Royal Devon and Exeter NHS Foundation Trust

    collaborator OTHER

  • University of Exeter

    lead OTHER

Principal Investigators

  • Andrew Hattersley, FRS, FMed · University of Exeter

Eligibility

Min Age
6 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-11-11
Primary Completion
2029-02-28
Completion
2029-02-28

Countries

  • United Kingdom

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06478121 on ClinicalTrials.gov