Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age6-99
SponsorUniversity of Exeter
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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).
Disqualifiers
Lack of mental capacity to give informed consent
Age <6 years; >99 years
Cochlear Implant
Aneurysm Clips
Trial population
Participants will be selected based on: 1. having a confirmed disease-causing genetic change that results in a beta cell disorder; 2. or being a suitably matched control (same sex; age +/- 15%; BMI +/- 3 kg/m2).
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Data and Blood collection
Other interventionData and Blood collection
MRI
Other interventionMRI (optional)
Treatment groups
50 Participants
are divided into 2 treatment groupsGroup A: Case with confirmed disease-causing genetic change2 interventions
Group B: Control (without the variant of interest)2 interventions
Trial outcomes
Primary outcomes
1
Identification and description of biomarkers or cellular features associated with specific rare causal genetic variants.
Study of cellular features (assessing gene and protein expression by relevant methodologies, including RNA sequencing and Flow Cytometry) in blood samples that occur because of the rare causal genetic variant.
Time frame
5 years2
Identification of alterations in physiological function with specific rare genetic variants.
Study of the altered physiology (assessed by magnetic resonance imaging) or cellular function (biochemical assessment of pancreatic hormones/enzymes) that are due to the rare causal genetic variant.
Time frame
5 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
University of Exeter
Lead sponsor
Royal Devon and Exeter NHS Foundation Trust
Collaborator
Source ClinicalTrials.gov