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

Recruitingn/aAges 6 Years - 99 YearsAllUniversity of Exeter
NCT06478121 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 o

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📋 Eligibility rules (as published)
Inclusion Criteria * 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). Exclusion Criteria * 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.
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What it tests

  • Data and Blood collection
  • MRI
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Where

1 site
Royal Devon University Healthcare NHS Foundation Trust
Exeter, United Kingdom
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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