Using cheek (buccal) cells to detect cell-junction protein changes in inherited arrhythmias

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.