Actively Recruiting
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
Led by University of Exeter · Updated on 2026-01-16
50
Participants Needed
1
Research Sites
172 weeks
Total Duration
On this page
Sponsors
U
University of Exeter
Lead Sponsor
R
Royal Devon and Exeter NHS Foundation Trust
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Mental capacity to give informed consent
- Participants of any sex, ethnicity, and location
- Group 1: Participants with a genetic variant causing a beta cell disorder
- Group 2: Participants without the genetic variant, matched to a case by sex, age (+/- 15%), and BMI (+/- 3 kg/m2)
You will not qualify if you...
- Lack of mental capacity to give informed consent
- Age younger than 6 years or older than 99 years
- For MRI assessments: having a cochlear implant
- For MRI assessments: having aneurysm clips
- For MRI assessments: having a neurological stimulator
- For MRI assessments: having implanted cardiac devices such as ICD, PPM, loop recorders, or others
- For MRI assessments: having a metal heart valve
- For MRI assessments: history of metal foreign bodies in the eye sockets
- For MRI assessments: having other implanted metal devices preventing MRI
- For MRI assessments: known claustrophobia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Royal Devon University Healthcare NHS Foundation Trust
Exeter, Devon, United Kingdom, EX2 5DW
Actively Recruiting
Research Team
M
Matthew Johnson, PhD
CONTACT
M
Martin Eichmann, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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