ClinicaliQ Trial Snapshot
- Distribution of Cell-cell Junction Proteins in Arrhythmic Disorders — Recruiting • Cardiology / Cardiovascular • NCT04257994.
- What is being tested: The distribution and function of cell-cell junction proteins in heritable cardiac disorders that predispose to sudden cardiac death, investigating how abnormal protein localization contributes to arrhythmic mechanisms.
- Patient eligibility overview: The trial focuses on individuals with heritable cardiac disorders associated with sudden cardiac death risk, particularly those under 35 years old, though specific enrollment criteria would be detailed in the full protocol.
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What This Trial Is Studying
Every week in the UK, 12 apparently healthy and fit individuals under the age of 35 die suddenly, a tragic event known as sudden cardiac death (SCD). The investigators have shown that heritable cardiac disorders affect the distribution of proteins at the cardiac cell-cell junctions, the areas where cardiac cells are mechanically and electrically coupled. This knowledge has helped the investigators diagnose specific heart disorders in individuals thus reducing the risk and incidence of SCD. Yet, the primary material required is a heart sample. A heart biopsy is an invasive…
Eligibility Snapshot
- :• 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…
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.