Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseas… (NCT04931498) | Clinical Trial Compass
Active — Not RecruitingNot Applicable
Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers (GENBIO)
United Kingdom100 participantsStarted 2018-03-01
Plain-language summary
The risk of cardiovascular disease is determined by the complex interplay between an individual's genetic make-up, lifestyle, and the environment. The researchers in this observational, cross-sectional, recall-by-genotype study are investigating two potential genetic risk factors; the SWAP70 gene is thought to play a role in the immune response modulating cardiovascular disease risk and the GMPR gene plays a role in red blood cell formation. The investigators hope to identify and characterise distinct molecular and cellular mechanisms underlying candidate functional variants identified in genetic studies of cardiovascular and immune-related human traits and diseases.
Healthy volunteers who are part of the NIHR BioResource and have already been genotyped will be invited to the study based on their genotype of the candidate functional variants of interest. Volunteers will attend a single study visit, during which they will complete procedures including a medical, demographic and lifestyle factors questionnaire; height, weight and body fat assessments; in addition to blood pressure/heart rate measurements. A minimally invasive procedure of a venepuncture will be performed to assess the primary objectives of the study.
The obtained data may (1) improve understanding of biological and disease mechanisms; (2) identify potential drug targets; and (3) improve insight into the therapeutic potential and limitations of existing and emerging therapies.
This study is funded by the UK Medical Research Council, British Heart Foundation and NIHR Cambridge Biomedical Research Centre.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Have consented to be part of the NIHR BioResource;
* Are aged 18 years and above;
* Have given written informed consent to participate in the GENBIO study;
* Are carriers or non-carriers of the candidate functional genetic variant(s) of interest.
Exclusion Criteria:
Have a chronic disease, including cardiovascular diseases, autoimmune diseases and cancer.
Additional exclusion criteria to be applied at the discretion/opinion of the CI/collaborator, based on the population of available volunteers for recall and the genetic variant of interest (e.g. allele frequency):
* Have a biological first-degree relatives (parents, brothers, sisters or children) who are suffering or have suffered from a disease/condition in the opinion of the CI/collaborator that, from a genetic standpoint, may affect the study validity;
* Are current regular smokers. Regular ex-smokers are suitable if they stopped smoking \>10 years ago (regular defined as 1 pack year in both instances);
* Have ≥3 alcoholic drinks per day;
* Have a diagnosis of hypertension, or history of consistently high blood pressure readings, e.g. \>140/90 mmHg;
* Have a diagnosis of hypercholesterolemia, or history of consistently high cholesterol levels, e.g. total cholesterol level \>6 mmol/l;
* Are obese (i.e. BMI \>30);
* Are unwilling to fast and not to consume products containing alcohol or caffeine 12 hours prior to procedures.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This study is labeled 'Active, Not Recruiting' — does that mean there's no way for me to participate at this point, and if so, are there similar studies looking at genetic factors in heart disease that I could join instead?
2Since this trial is measuring things like specific proteins in red blood cells and how immune cells function rather than testing a treatment, what would actually be in it for me as a participant — would I learn anything useful about my own cardiovascular risk from taking part?
3The study is looking at proteins like GMPR in red blood cells and SWAP70 in immune cells — can you help me understand what researchers are hoping these findings might eventually mean for patients with cardiovascular disease, and how far away that might be from affecting real treatment decisions?
4Since this appears to be a research study on healthy volunteers rather than a treatment trial, would participating in something like this make sense given my current diagnosis, or would my time be better spent focusing on established treatment options first?
5The trial is measuring immune cell behavior and phagocytosis by monocytes — is there any chance that having my blood drawn or immune cells analyzed for this study could interfere with any treatments or tests my care team has planned for me?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Levels of GMPR protein in isolated erythrocytes
Timeframe: At baseline
2
Levels of SWAP70 protein in immune cell subsets
Timeframe: At baseline
3
Proportion of immune cell types as measured using flow cytometric analysis
Timeframe: At baseline
4
Levels of genes/transcripts in immune cell subsets
Timeframe: At baseline
5
Concentration of immunoglobulin isotypes in plasma
Timeframe: At baseline
6
Phagocytosis by monocytes as measured by colorimetric analysis (optical density)
Timeframe: At baseline
Trial details
NCT IDNCT04931498
SponsorCambridge University Hospitals NHS Foundation Trust