Genetic PredispositionGeneAFNCT04932798
Genetic Risk-Based Atrial Fibrillation Screening (GeneAF Study)
An observational study of Genetic Predisposition and Atrial Fibrillation, run by Montreal Heart Institute at 1 site in Canada.
Trial summary
AF is the most common sustained arrhythmia in adults and its prevalence increases with advancing age. In this study, we aim to determine whether the published genome-wide polygenic scores for atrial fibrillation (GPSAF) can facilitate AF screening by accurately discriminating between patients with low and high risk… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Genetic Predisposition, Atrial Fibrillation
- What is being tested?
- Resting ECG (if first visit is done on site only), 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only) and 3-month AF detection monitoring using the Apple Watch
- How many people
- 726 participants
- Where
- 1 siteCanada
- Study dates
- 1 Jun 2021to 10 Jan 2026
- How long will I take part?
- 3 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: All included subjects are current participants in the Montreal Heart Institute (MHI) biobank. Only candidates who would be considered for anticoagulation in case atrial firbrillation is detected (actionable AF; CHADS65 > 1) will be considered for inclusion. MHI biobank participants that are eligible for the current study will be contacted to be part of the study.
Who may be able to join
- Having a CHADS65 score>1, which requires either:
- Age >= 65 and/or A prior Stroke or TIA and/or Hypertension and/or A history of heart failure and/or Diabetes
Who cannot join
- Already on oral anticoagulation
- Any prior history of AF or atrial flutter (AFl)
- Patients currently having an implantable device (pacemaker, defibrillator or loop recorder) that allows detection of AF/AFl
- Refusing testing with the "Apple Watch"
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Genetic Risk-Based Atrial Fibrillation Screening
AF is the most common sustained arrhythmia in adults and its prevalence increases with advancing age.
In this study, we aim to determine whether the published genome-wide polygenic scores for atrial fibrillation (GPSAF) can facilitate AF screening by accurately discriminating between patients with low and high risk for AF.
Read more
All included patients are participating in the MHI biobank, an ongoing funded institutional DNA bank and clinical registry approved by the research ethics board where included patients consent for future genetic research.
The study will compare AF detection rate using a 3 months near continuous monitoring in individuals with a high GPSAF with matched individuals from the bottom GPSAF.
Read the detailed description
In Canada, 50,000 strokes occur every year and can have devastating consequences on patients. Approximately 15% of strokes are attributable to an undiagnosed arrhythmia, atrial fibrillation (AF). Strokes due to AF are more severe and lethal but are preventable with anti-coagulation. Most patients who suffer from AF are asymptomatic and thus don't come spontaneously to medical attention. The diagnosis can be made by electrocardiographical (ECG) recording. As longer recordings spanning on weeks and months are often required, it is not possible to apply this intense screening to the entire population. The GeneAF project thus aims to use genetic information to identify and target patients who benefit the most from a more intensive screening approach. A previously published genetic polygenic risk score (GPS) for AF has been shown to be associated with prevalent AF in the UK biobank population. Participants in the top 5 percentile were three times more likely to have a history of AF (prevalent AF).
The aim of this project is to determine if the use of this previously published GPS score for prevalent AF can be used to screen for silent incident AF in our population.
Primary objective: To assess the association of GPSAF with silent AF and compare AF detection rates in patients with a high GPSAF to matched controls.
Secondary objectives: To determine the proportion of patients with identified AF who will be prescribed anticoagulation during follow-up.
Methods:
The GeneAF study is a cohort study comparing AF detection rate using a 3 months near-continuous monitoring in individuals with a high GPSAF (top 5%; High Risk group) with matched individuals from the bottom 95% GPSAF (Lower Risk group). All included subjects are current participants in the MHI biobank. Only candidates who would be considered for anticoagulation in case AF is detected (actionable AF; CHADS-65 > 1. We estimate that approximately 350 patients per group will be needed.
- Conditions
- Genetic Predisposition, Atrial Fibrillation
- Being tested
- Resting ECG (if first visit is done on site only), 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only), 3-month AF detection monitoring using the Apple Watch
- Medical subject headings
- Genetic Predisposition to Disease, Atrial Fibrillation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Resting ECG (if first visit is done on site only)Diagnostic test
The standard 12-lead electrocardiogram is a representation of the heart's electrical activity recorded from electrodes on the body surface.
This test requires around 15 minutes of the participant's time.
24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only)Diagnostic test
The Holter monitor is a type of portable electrocardiogram (ECG) worn continuously for 24 hours.
3-month AF detection monitoring using the Apple WatchDiagnostic test
Patients with irregular heart rates will be notified by the Apple Watch and instructed to confirm the rhythm by using the integrated ECG recording system. This simply requires touching the watch with a finger from the opposite hand and provides a 30 seconds one-lead ECG recording of diagnostic quality. These tracing will be transferred to the study team for analysis using a dedicated email.
| Study group | Role | What they receive |
|---|---|---|
| High-Risk group | : Montreal Heart Institute biobank participants with a high specific genome-wide polygenic risk scores for atrial fibrillation G Receives: Diagnostic Test: Resting ECG (if first visit is done on site only); Diagnostic Test: 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only); Diagnostic Test: 3-month AF detection monitoring using the Apple Watch | |
| Low-Risk group | Montreal Heart Institute biobank participants with a low specific genome-wide polygenic risk scores for atrial fibrillation G Receives: Diagnostic Test: Resting ECG (if first visit is done on site only); Diagnostic Test: 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only); Diagnostic Test: 3-month AF detection monitoring using the Apple Watch |
What is being measured
The primary outcome is the main question the study is designed to answer.
Detection of atrial fibrillation/atrial flutter (Y/N)
Atrial Fibrillation will be diagnosed according to the standard definition: "at least one 30-second recording with irregular rhythm without p waves". This will be accomplished either through the baseline ECG, Holter or during the 3 months monitoring with the Apple watch.
The diagnostic of AF with the "Apple watch" requires:
- Detection of irregular heart rate (photopletysmography)
- Confirmation of the rhythm with a real time single lead 30 seconds ECG with the Apple Watch.
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jun 2021
- Study start1 Jun 2021
- Primary completion10 Jan 2026 (estimated)
- Study completion10 Jan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Genetic PredispositionStudies 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
- 726 participants (estimated)
- Target duration
- 3 Months
Sponsor and investigators
- Lead sponsor
- Montreal Heart Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Julia Cadrin-Tourigny, Montreal Heart Institute
- Investigators
- Julia Cadrin-Tourigny, MD, Principal investigator, Montreal Heart Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04932798
- Sponsor's protocol ID
- 2020-2780
- Acronym
- GeneAF
- Status last verified
- Aug 2022
- First submitted
- 8 Jun 2021
- Last updated
- 1 Sep 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.
PubMed 30104762Wunnemann F, Sin Lo K, Langford-Avelar A, Busseuil D, Dube MP, Tardif JC, Lettre G. Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians. Circ Genom Precis Med. 2019 Jun;12(6):e002481. doi: 10.1161/CIRCGEN.119.002481. Epub 2019 Jun 11.
PubMed 31184202Perez MV, Mahaffey KW, Hedlin H, Rumsfeld JS, Garcia A, Ferris T, Balasubramanian V, Russo AM, Rajmane A, Cheung L, Hung G, Lee J, Kowey P, Talati N, Nag D, Gummidipundi SE, Beatty A, Hills MT, Desai S, Granger CB, Desai M, Turakhia MP; Apple Heart Study Investigators. Large-Scale Assessment of a Smartwatch to Identify Atrial Fibrillation. N Engl J Med. 2019 Nov 14;381(20):1909-1917. doi: 10.1056/NEJMoa1901183.
PubMed 31722151
Study at a glance
From the registry record, last updated by the sponsor on 1 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Risk-Based Atrial Fibrillation Screening
- ClinicalTrials.gov ID
- NCT04932798
- Acronym / sponsor ID
- GeneAF / 2020-2780
- Conditions
- Genetic Predisposition, Atrial Fibrillation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 726 participants (estimated)
- Lead sponsor
- Montreal Heart InstituteUniversity, hospital or other
- Study start
- 1 Jun 2021 (actual)
- Primary completion
- 10 Jan 2026 (estimated)
- Study completion
- 10 Jan 2026 (estimated)
- First posted
- 21 Jun 2021 (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.
AF is the most common sustained arrhythmia in adults and its prevalence increases with advancing age.
In this study, we aim to determine whether the published genome-wide polygenic scores for atrial fibrillation (GPSAF) can facilitate AF screening by accurately discriminating between patients with low and high risk for AF.
All included patients are participating in the MHI biobank, an ongoing funded institutional DNA bank and clinical registry approved by the research ethics board where included patients consent for future genetic research.
The study will compare AF detection rate using a 3 months near continuous monitoring in individuals with a high GPSAF with matched individuals from the bottom GPSAF.
Detailed description
In Canada, 50,000 strokes occur every year and can have devastating consequences on patients. Approximately 15% of strokes are attributable to an undiagnosed arrhythmia, atrial fibrillation (AF). Strokes due to AF are more severe and lethal but are preventable with anti-coagulation. Most patients who suffer from AF are asymptomatic and thus don't come spontaneously to medical attention. The diagnosis can be made by electrocardiographical (ECG) recording. As longer recordings spanning on weeks and months are often required, it is not possible to apply this intense screening to the entire population. The GeneAF project thus aims to use genetic information to identify and target patients who benefit the most from a more intensive screening approach. A previously published genetic polygenic risk score (GPS) for AF has been shown to be associated with prevalent AF in the UK biobank population. Participants in the top 5 percentile were three times more likely to have a history of AF (prevalent AF).
The aim of this project is to determine if the use of this previously published GPS score for prevalent AF can be used to screen for silent incident AF in our population.
Primary objective: To assess the association of GPSAF with silent AF and compare AF detection rates in patients with a high GPSAF to matched controls.
Secondary objectives: To determine the proportion of patients with identified AF who will be prescribed anticoagulation during follow-up.
Methods:
The GeneAF study is a cohort study comparing AF detection rate using a 3 months near-continuous monitoring in individuals with a high GPSAF (top 5%; High Risk group) with matched individuals from the bottom 95% GPSAF (Lower Risk group). All included subjects are current participants in the MHI biobank. Only candidates who would be considered for anticoagulation in case AF is detected (actionable AF; CHADS-65 > 1. We estimate that approximately 350 patients per group will be needed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Months
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| High-Risk group | – | Diagnostic Test: Resting ECG (if first visit is done on site only), Diagnostic Test: 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only), Diagnostic Test: 3-month AF detection monitoring using the Apple Watch: Montreal Heart Institute biobank participants with a high specific genome-wide polygenic risk scores for atrial fibrillation G |
| Low-Risk group | – | Diagnostic Test: Resting ECG (if first visit is done on site only), Diagnostic Test: 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only), Diagnostic Test: 3-month AF detection monitoring using the Apple WatchMontreal Heart Institute biobank participants with a low specific genome-wide polygenic risk scores for atrial fibrillation G |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All included subjects are current participants in the Montreal Heart Institute (MHI) biobank. Only candidates who would be considered for anticoagulation in case atrial firbrillation is detected (actionable AF; CHADS65 > 1) will be considered for inclusion. MHI biobank participants that are eligible for the current study will be contacted to be part of the study.
Key inclusion criteria (2 listed)
- Having a CHADS65 score>1, which requires either:
- Age >= 65 and/or A prior Stroke or TIA and/or Hypertension and/or A history of heart failure and/or Diabetes
Key exclusion criteria (4 listed)
- Already on oral anticoagulation
- Any prior history of AF or atrial flutter (AFl)
- Patients currently having an implantable device (pacemaker, defibrillator or loop recorder) that allows detection of AF/AFl
- Refusing testing with the "Apple Watch"
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Resting ECG (if first visit is done on site only)The standard 12-lead electrocardiogram is a representation of the heart's electrical activity recorded from electrodes on the body surface. This test requires around 15 minutes of the participant's time. | Diagnostic test | High-Risk group, Low-Risk group |
| 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only)The Holter monitor is a type of portable electrocardiogram (ECG) worn continuously for 24 hours. | Diagnostic test | High-Risk group, Low-Risk group |
| 3-month AF detection monitoring using the Apple WatchPatients with irregular heart rates will be notified by the Apple Watch and instructed to confirm the rhythm by using the integrated ECG recording system. This simply requires touching the watch with a finger from the opposite hand and provides a 30 seconds one-lead ECG recording of diagnostic quality. These tracing will be transferred to the study team for analysis using a dedicated email. | Diagnostic test | High-Risk group, Low-Risk group |
Primary outcome
Detection of atrial fibrillation/atrial flutter (Y/N)
Time frame: 3 months
Atrial Fibrillation will be diagnosed according to the standard definition: "at least one 30-second recording with irregular rhythm without p waves". This will be accomplished either through the baseline ECG, Holter or during the 3 months monitoring with the Apple watch. The diagnostic of AF with the "Apple watch" requires: 1. Detection of irregular heart rate (photopletysmography) 2. Confirmation of the rhythm with a real time single lead 30 seconds ECG with the Apple Watch.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Sep 2022.
- Background: PubMed 30104762Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.
- Background: PubMed 31184202Wunnemann F, Sin Lo K, Langford-Avelar A, Busseuil D, Dube MP, Tardif JC, Lettre G. Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians. Circ Genom Precis Med. 2019 Jun;12(6):e002481. doi: 10.1161/CIRCGEN.119.002481. Epub 2019 Jun 11.
- Background: PubMed 31722151Perez MV, Mahaffey KW, Hedlin H, Rumsfeld JS, Garcia A, Ferris T, Balasubramanian V, Russo AM, Rajmane A, Cheung L, Hung G, Lee J, Kowey P, Talati N, Nag D, Gummidipundi SE, Beatty A, Hills MT, Desai S, Granger CB, Desai M, Turakhia MP; Apple Heart Study Investigators. Large-Scale Assessment of a Smartwatch to Identify Atrial Fibrillation. N Engl J Med. 2019 Nov 14;381(20):1909-1917. doi: 10.1056/NEJMoa1901183.
- 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. This study is not recruiting at the moment.
Julia Cadrin-Tourigny, MD principal investigator
Montreal Heart Institute
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 Predisposition and Atrial Fibrillation, run by Montreal Heart Institute at 1 site in Canada.
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 4 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: status not confirmed, as of the sponsor's last update on 1 Sep 2022. 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 Canada. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Detection of atrial fibrillation/atrial flutter (Y/N) (time frame: 3 months). 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 NCT04932798, which also lists 3 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 1 Sep 2022.