Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART

NCT ID: NCT06898307

Last Updated: 2025-03-27

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-11-01
• Study Completion Date: 2035-11-01

Brief Summary

The goal of this observational study is to enroll all patients evaluated at the specialized Cardiogenetic Center within the Cardiology Department of the University of Ferrara, Italy. The primary aim of the registry is to collect comprehensive clinical, genetic, and electrophysiological data from individuals with suspected or confirmed arrhythmogenic conditions. By systematically documenting patient demographics, family history, clinical presentations, diagnostic findings, and treatment outcomes, the registry seeks to enhance our understanding of the genetic basis and clinical implications of genetically driven arrhythmias and systemic syndromes. This registry will facilitate long-term follow-up of enrolled patients to assess the natural history of arrhythmogenic disorders and the effectiveness of various therapeutic interventions. Additionally, it aims to identify potential risk factors associated with adverse outcomes, such as sudden cardiac death or major arrhythmic events.

Detailed Description

Cardiogenetics is essential in daily clinical practice, providing critical insights into the genetic basis of inherited cardiovascular conditions. This knowledge enables more accurate diagnoses, risk assessments, and personalized management strategies for patients. By understanding the genetic underpinnings of arrhythmias and other heart diseases, healthcare providers can identify at-risk individuals and their family members, facilitating early intervention and preventive measures. Establishing an observational registry for these conditions is vital, as it systematically collects data on patient demographics, clinical presentations, genetic findings, and treatment outcomes. This comprehensive database enhances our understanding of the natural history and variability of genetic cardiovascular disorders while supporting research efforts aimed at developing improved diagnostic tools and therapeutic approaches. Ultimately, such a registry can enhance patient care by informing clinical guidelines and fostering collaboration among clinicians, geneticists, and researchers in the field.

Therefore, the goal of this observational study is to gather extensive clinical, genetic, and electrophysiological data from individuals with suspected or confirmed arrhythmogenic conditions. By systematically documenting patient demographics, family history, clinical presentations, diagnostic findings, and treatment outcomes, the registry aims to deepen our understanding of the genetic basis and clinical implications of genetically driven arrhythmias and systemic syndromes.

Conditions

Genetic Disease; Cardiac Disease; Cardiac Arrhythmias; Genetic Disorder; Cardiology

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Patients with cardiogenetic disease

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Patients evaluated at the Cardiogenetic Center of the University of Ferrara in Ferrara, Italy.
• Having a proven cardiogenetic disease

Exclusion Criteria

• Refuse to provide informed consents
• Patients not having a cardiogenic disease

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital of Ferrara

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Cristina Balla, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Università degli Studi di Ferrara

Locations

Department of Cardiology, University Hospital of Ferrara

Ferrara, , Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Cristina Balla, MD PhD

Role: CONTACT

bllcst@unife.it

+39 0532 239886

Facility Contacts

Cristina Balla, MD PhD

Role: primary

bllcst@unife.it

+39 0532 239886

References

Conte G, Wilde A, Behr ER, Scherr D, Lenarczyk R, Gandjbachkh E, Crotti L, Brugada-Sarquella G, Potpara T. Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes. Circ Genom Precis Med. 2021 Apr;14(2):e003313. doi: 10.1161/CIRCGEN.120.003313. Epub 2021 Apr 2. No abstract available.

Reference Type: BACKGROUND

PMID: 33797288 (View on PubMed)

Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M; ESC Scientific Document Group. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022 Oct 21;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262. No abstract available.

Reference Type: BACKGROUND

PMID: 36017572 (View on PubMed)

Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013 Oct;10(10):571-83. doi: 10.1038/nrcardio.2013.108. Epub 2013 Jul 30.

Reference Type: BACKGROUND

PMID: 23900354 (View on PubMed)

Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013 Dec;10(12):1932-63. doi: 10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30. No abstract available.

Reference Type: BACKGROUND

PMID: 24011539 (View on PubMed)

Other Identifiers

307/2023/Oss/AOUFe

Identifier Type: -

Identifier Source: org_study_id