Understanding beta cell disorders through genetic insights
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This study is trying to learn more about beta cell problems, like diabetes, by looking at the genes of people with and without these issues to see if it can help find new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 6 Years to 99 Years |
| Sex | All |
| Sponsor | University of Exeter Academic / other |
| Locations | 1 site (Exeter, Devon) |
| Trial ID | NCT06478121 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the cellular and molecular mechanisms behind beta cell disorders, such as diabetes and hyperinsulinism, by recruiting participants based on their genetic variants. Individuals with and without pathogenic genetic variants will be analyzed to identify biomarkers and cellular features linked to these disorders. Participants will undergo data collection, height and weight measurements, blood sampling, and optional MRI scans, depending on their genotype. The study aims to enhance the understanding of beta cell function and potentially lead to new treatment strategies for affected individuals.
Who should consider this trial
Good fit: Ideal candidates include individuals with confirmed genetic variants causing beta cell disorders and matched controls without such variants.
Not a fit: Patients without a genetic variant related to beta cell disorders or those outside the specified age range may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and better management strategies for patients with beta cell disorders.
How similar studies have performed: While this approach is innovative, similar studies have shown promise in understanding genetic contributions to metabolic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Exeter, Devon
- Royal Devon University Healthcare NHS Foundation Trust — Exeter, Devon, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Andrew Hattersley, FRS, FMed — University of Exeter
- Study coordinator: Matthew Johnson, PhD
- Email: m.johnson@exeter.ac.uk
- Phone: +44 (0) 1392 408277
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.