Genetic DiseaseNCT06898307
Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART
An observational study of Genetic Disease and Cardiac Disease, run by University Hospital of Ferrara at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Disease, Cardiac Disease, Cardiac Arrhythmias
- How many people
- 200 participants
- Where
- 1 siteItaly
- Study dates
- 1 Nov 2017to 1 Nov 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Study Population
Who may be able to join
- Patients evaluated at the Cardiogenetic Center of the University of Ferrara in Ferrara, Italy.
- Having a proven cardiogenetic disease
Who cannot join
- Refuse to provide informed consents
- Patients not having a cardiogenic disease
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Department of Cardiology, University Hospital of Ferrara
Ferrara, 44124
Cristina Balla, MD PhD, +39 0532 239886, bllcst@unife.it
Cristina Balla, MD PhD
About this study
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.
Read the 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.
- Keywords
- Cardiogenetic
- Medical subject headings
- Genetic Diseases, Inborn, Heart Diseases, Arrhythmias, Cardiac
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with cardiogenetic disease | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
All-cause of death
The investigators will monitor patient's all causes death
Measured: At one and 5 years (end of the study)
Cardiovascular-related death
The investigators will monitor patient's all causes death
Measured: At one and 5 years (end of the study)
Secondary outcomes (5)
Onset or worsening heart faillure
The investigators will assess patient's hemodynamic stability over the years, monitoring the onset or the worsening of heart failure
Measured: At one and 5 years (end of the study)
Onset/worsening of atrial tachyarrhythmias
Measured: At one and 5 years (end of the study)
Onset/worsening of ventricular tachyarrhythmias
The investigators will monitor patient's rhythm over the years, assessing the onset or the worsening of ventricular tachyarrhythmias.
Measured: At one and 5 years (end of the study)
Need for PM/ICD
The investigators will evaluate procedural time of different cardiac pacing modalities
Measured: At one and 5 years (end of the study)
Types of genetic mutations
Types of genetic mutations
Measured: At the time of genetic analysis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2025
- Study start1 Nov 2017
- Primary completion1 Nov 2025 (estimated)
- Study completion1 Nov 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- University Hospital of Ferrara
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Cristina Balla, MD PhD, Principal investigator, Università degli Studi di Ferrara
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06898307
- Sponsor's protocol ID
- 307/2023/Oss/AOUFe
- Status last verified
- Dec 2024
- First submitted
- 3 Mar 2025
- Last updated
- 27 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 33797288Zeppenfeld 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.
PubMed 36017572Wilde 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.
PubMed 23900354Priori 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.
PubMed 24011539Zuin M, Balla C, Canovi L, Serenelli M, Vitali F, Malagu M, Guardigli G, Fucili A, Bertini M. Tricuspid annular plane systolic excursion to systolic pulmonary artery pressure ratio in Hypertrophic cardiomyopathy. Int J Cardiol. 2025 Dec 1;440:133680. doi: 10.1016/j.ijcard.2025.133680. Epub 2025 Aug 6.
PubMed 40774460
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: the ARRHYTHMIC GENE-HEART
- ClinicalTrials.gov ID
- NCT06898307
- Acronym / sponsor ID
- 307/2023/Oss/AOUFe
- Keywords
- Cardiogenetic
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University Hospital of FerraraUniversity, hospital or other
- Study start
- 1 Nov 2017 (actual)
- Primary completion
- 1 Nov 2025 (estimated)
- Study completion
- 1 Nov 2035 (estimated)
- First posted
- 27 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with cardiogenetic disease | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study Population
Key inclusion criteria (2 listed)
- Patients evaluated at the Cardiogenetic Center of the University of Ferrara in Ferrara, Italy.
- Having a proven cardiogenetic disease
Key exclusion criteria (2 listed)
- Refuse to provide informed consents
- Patients not having a cardiogenic disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
All-cause of death
Time frame: At one and 5 years (end of the study)
The investigators will monitor patient's all causes death
Cardiovascular-related death
Time frame: At one and 5 years (end of the study)
The investigators will monitor patient's all causes death
5 secondary outcomes
Onset or worsening heart faillure
Time frame: At one and 5 years (end of the study)
Onset/worsening of atrial tachyarrhythmias
Time frame: At one and 5 years (end of the study)
Onset/worsening of ventricular tachyarrhythmias
Time frame: At one and 5 years (end of the study)
Need for PM/ICD
Time frame: At one and 5 years (end of the study)
Types of genetic mutations
Time frame: At the time of genetic analysis
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2025.
- Background: PubMed 33797288Conte 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.
- Background: PubMed 36017572Zeppenfeld 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.
- Background: PubMed 23900354Wilde 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.
- Background: PubMed 24011539Priori 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.
- Derived from this study: PubMed 40774460Zuin M, Balla C, Canovi L, Serenelli M, Vitali F, Malagu M, Guardigli G, Fucili A, Bertini M. Tricuspid annular plane systolic excursion to systolic pulmonary artery pressure ratio in Hypertrophic cardiomyopathy. Int J Cardiol. 2025 Dec 1;440:133680. doi: 10.1016/j.ijcard.2025.133680. Epub 2025 Aug 6.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Cristina Balla, MD PhD principal investigator
Università degli Studi di Ferrara
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease and Cardiac Disease, run by University Hospital of Ferrara at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Cristina Balla, MD PhD (+39 0532 239886, bllcst@unife.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
All-cause of death (time frame: At one and 5 years (end of the study)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06898307, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2025.