Using cheek (buccal) cells to detect cell-junction protein changes in inherited arrhythmias
Analysis of Distribution of Cell-cell Junction Proteins in Buccal Smear Samples From Patients With Arrhythmic Disorders and Family Members at Risk as a Means for Diagnosis
This project will test whether a painless cheek-swab can reveal the same heart cell-junction protein changes in people with inherited arrhythmias such as arrhythmogenic cardiomyopathy, Brugada syndrome, and other channelopathies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 26 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | St. George's Hospital, London Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT04257994 on ClinicalTrials.gov |
What this trial studies
The team collects exfoliated buccal mucosa cells (cheek swabs) from patients and family members seen at the Inherited Cardiac Conditions service and analyzes protein distribution at cell-cell junctions. Prior work by the investigators showed that buccal cell protein patterns mirrored those in the heart for arrhythmogenic cardiomyopathy. This observational protocol extends that approach to more common heritable channelopathies and related cardiomyopathies to see if the same noninvasive marker applies. The procedure is noninvasive, requires no biopsy, and samples are obtained during routine clinic visits at St George's Hospital.
Who should consider this trial
Good fit: People diagnosed with heritable arrhythmic disorders or family members of affected probands (including arrhythmogenic, hypertrophic or dilated cardiomyopathy, cardiac sarcoidosis, long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia) followed at St George's ICC clinic are ideal candidates.
Not a fit: People with purely acquired/isolated non-heritable arrhythmias, those not followed at the ICC service, or patients unable to attend the London site are unlikely to benefit from participation.
Why it matters
Potential benefit: If successful, this could provide a simple, risk-free cheek-swab test to help identify people at risk of sudden cardiac death from inherited arrhythmias.
How similar studies have performed: The investigators published data showing buccal cell protein changes correlated with arrhythmogenic cardiomyopathy and reported a 91.9% positive predictive value in a larger sample, but applying this approach to channelopathies is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria:• Participants will include patients diagnosed with a heritable arrhythmic disorder (including arrhythmogenic, hypertrophic and dilated cardiomyopathy, cardiac sarcoidosis as well as cardiac channelopathies; Long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia) followed at the Inherited Cardiac Conditions (ICC) service of St. George's University Hospitals NHS Foundation Trust. * Family members of victims of SCD evaluated at the same clinic for risk assessment and diagnosis. These groups include both individuals with clear disease manifestation (termed "affected") as shown by conventional diagnostic approaches (electrocardiography, echocardiography, cardiac MRI, Holter monitoring) as well as potential carriers of disease-causing mutations who, however, may not/not yet manifest any overt sign of cardiovascular abnormalities (termed "carriers"). These are typically family members of probands diagnosed with a heritable arrhythmic disorder or family members of a sudden cardiac death victim. * All individuals that fall in the above categories will be included regardless of their management (medication, devices, and surgical procedures). * Individuals with co-existing conditions will also be included and their medical history will be taken into account when interpreting the results of the immunohistochemical analysis. * Adult individuals (\>18 years of age). * Pregnant women will be included as the approach used is not in any way harmful or uncomfortable. * All individuals must have provided the study team with a signed informed consent in order to participate in the study. Exclusion Criteria:• Children under 18 years of age * Individuals lacking decisional capacity. * Individuals with non-heritable, non-arrhythmic cardiac disorders (such as ischemic heart disease or inflammatory disorders) followed at St. George's University Hospitals NHS Foundation Trust. * Non-English speakers will be excluded from the study unless a translator is present who can thoroughly explain to them the research question/plan in order for them to provide an informed consent.
Where this trial is running
London
- St George'S Hospital — London, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Angeliki Asimaki — St George's, University of London
- Study coordinator: Angeliki Asimaki
- Email: aasimaki@sgul.ac.uk
- Phone: 02087252817
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.