South Asian Arrhythmogenic Cardiomyopathy Registry

NCT04895540 | Unknown

• 1 other identifier: SKIMSCL-2021-001
• Study Type: observational
• Target: 100
• Locations: 2 countries
• Sites: 3

Brief Summary

Arrhythmogenic Cardiomyopathy (ACM) is increasingly identified as an important cause of cardiac morbidity and mortality, especially of SCD, in a younger population. Although there are no epidemiological data available, the investigators' experience is that in the North Indian region, ACM is rare outside our regions. ACM is also an understudied cardiac disorder in the South-Asian region. An ethnic nonmigratory population inhabits the two regions, and consanguineous marriages are common. Based on these observations, the investigators firmly believe that there may be a founder gene in our populations responsible for the increased incidence of ACM. Our project includes a thorough phenotypic analysis ((ECG, Holter, and echocardiography) in the ACM patients and their first-degree relatives; cardiac MRI and high resolution endocardial bipolar and unipolar voltage mapping (using HD grid catheter) in the patients. The patient provided blood for the extraction of DNA will first undergo target panel sequencing for 20 known classic right-dominant ACM and left-dominant ACM. If this is negative for known pathogenic and likely pathogenic variants but identified novel variants of uncertain significance (VUS), then co-segregation analysis in family members will be performed. This technique can provide helpful information to reclassify VUSs. If both these are negative, then whole-exome 'trio' analysis will be performed, whch includes the proband and two family members, to triangulate from all 20,000 genes to a list of candidates for further interrogation. The investigators wish to provide comprehensive answers to the research question by combining the genetic analysis with phenotypic evaluation.

Conditions

Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia; Arrhythmogenic Ventricular Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Ventricular Tachycardia; Sudden Cardiac Death

Outcome Measures

Primary Outcomes (3)

• Completion of Data collection and phenotypic evaluation

  May 2021-April 2022

• Completion of genetic analysis

  May 2021-April 2022

• Phenotypic and genotpic assessment

  May 2022-June 2022

Study Arms (3)

Diagnosed ACM patients

Diagnostic Test: ECG; Diagnostic Test: Echocardiography; Diagnostic Test: Cardiac MRI; Diagnostic Test: Ambulatory ECG recording; Diagnostic Test: Cardiac EP study; Genetic: All study subjects will undergo sample collection for genetic testing.

First degree relatives of ACM patients

Diagnostic Test: ECG; Diagnostic Test: Echocardiography; Genetic: All study subjects will undergo sample collection for genetic testing.

Relatives of ACM patients who have suffered an SCD

Diagnostic Test: ECG; Diagnostic Test: Echocardiography; Genetic: All study subjects will undergo sample collection for genetic testing.

Interventions

ECG DIAGNOSTIC_TEST

All study subjects will undergo ECG recording.

Diagnosed ACM patients; First degree relatives of ACM patients; Relatives of ACM patients who have suffered an SCD

Echocardiography DIAGNOSTIC_TEST

All study subjects will undergo transthoracic echocardiography

Diagnosed ACM patients; First degree relatives of ACM patients; Relatives of ACM patients who have suffered an SCD

Cardiac MRI DIAGNOSTIC_TEST

All ACM patients and SCD survivors will undergo cardiac MRI testing.

Diagnosed ACM patients

Ambulatory ECG recording DIAGNOSTIC_TEST

All ACM patients and SCD survivors will undergo 24-hour ambulatory ECG recording

Diagnosed ACM patients

Cardiac EP study DIAGNOSTIC_TEST

ACM patients and SCD survivors will undergo diagnostic cardiac Electrophysiology testing.

Diagnosed ACM patients

All study subjects will undergo sample collection for genetic testing. GENETIC

Blood samples and buccal swab will be collected from study subjects for genetic testing.

Diagnosed ACM patients; First degree relatives of ACM patients; Relatives of ACM patients who have suffered an SCD

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study population will consist of ACM patients and their first degree relatives and other relatives who have suffered an SCD

You may qualify if:

• Patients diagnosed with ACM according to 2010 Task Force CriteriaParents of ACM patients
• Siblings of ACM patients
• Relatives of ACM patients who have suffered an SCD

You may not qualify if:

• ACM patients or their relatives who refuse to give consent for participation in the study.
• Study subjects who refuse to provide consent for a specific test or investigation will not be excluded.

Sponsors & Collaborators

• Sheri Kashmir Institute of Medical Sciences: lead
• Indian Heart Rhythm Society: collaborator
• Sri Jayadeva Institute of Cardiovascular Sciences and Research: collaborator
• University of Pennsylvania: collaborator

Study Sites (3)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

Sher-i-Kashmir Institute of Medical Sciences

Srinagar, Jammu and Kashmir, 190011, India

Location

Sri Jayadeva Institute of Cardiovascular Sciences and Research

Bangalore, Karnataka, 560029, India

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples Buccal swab

MeSH Terms

Conditions

Arrhythmogenic Right Ventricular Dysplasia; Tachycardia, Ventricular; Death, Sudden, Cardiac

Interventions

Electrocardiography; Echocardiography; Genetic Testing

Condition Hierarchy (Ancestors)

Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Cardiomyopathies; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Tachycardia; Arrhythmias, Cardiac; Cardiac Conduction System Disease; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Heart Arrest; Death, Sudden; Death

Intervention Hierarchy (Ancestors)

Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Electrodiagnosis; Cardiac Imaging Techniques; Diagnostic Imaging; Ultrasonography; Clinical Laboratory Techniques; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 17, 2021
• First Posted: May 20, 2021
• Study Start: April 10, 2021
• Primary Completion: May 1, 2022
• Study Completion: May 1, 2022
• Last Updated: June 2, 2021

Record last verified: 2021-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1); IN (2)