Please note the ANZCTR will be unattended from Friday 24 December 2021 for the holidays. The Registry will re-open on Monday 17 January 2022. Submissions and updates will not be processed during that time.

For new and updated trial submissions, we are processing trials as quickly as possible and appreciate your patience. We recommend submitting your trial for registration at the same time as ethics submission.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this information for consumers
Trial registered on ANZCTR

Registration number
Ethics application status
Date submitted
Date registered
Date last updated
Date data sharing statement initially provided
Type of registration
Retrospectively registered

Titles & IDs
Public title
The Prospective Athlete Heart Study- elucidating genetic determinants of cardiac remodelling using endurance exercise as an environmental stress.
Scientific title
The Prospective Athlete Heart Study- elucidating genetic determinants of cardiac remodelling using endurance exercise as an environmental stress.
Secondary ID [1] 294706 0
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Cardiac Remodelling 307567 0
Athlete's Heart 307568 0
Heart Failure 307569 0
Genetics 307571 0
Cardiac arrythmia's 307572 0
Condition category
Condition code
Cardiovascular 306641 306641 0 0
Normal development and function of the cardiovascular system

Study type
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
A prospective comparison of endurance athletes and non-athletes which will assess the primary hypothesis that rare variants in 65 genes associated with abnormalities of cardiac structure will be more prevalent in those athletes with the greatest cardiac remodelling after 2 years of intense endurance exercise training.
All subjects will undergo detailed assessment of cardiac structure and exercise capacity at baseline, after two years, 5 years and every 5 years after that for 25years total.
Testing will include, anthropometry measures (height, weight, BP), echocardiogram, electrocardiogram, 24h holter monitoring, Cardiac Magnetic Resonance Imaging with exercise, VO2 max test, 12 month exercise diary, blood samples, Dexa scan.
Selection for genotyping after 2 years.
Intervention code [1] 300999 0
Diagnosis / Prognosis
Comparator / control treatment
Endurance exercise represents the ideal model for testing genetic–environmental interactions. Therefore endurance athletes will be compared to a non-athletic control group.
Control group

Primary outcome [1] 305638 0
Assess the prevalence of rare variants in cardiac structural genes relative to Left Ventricular Mass index in endurance athletes and non-athletes by performing next generation sequencing in 65 cardiac genes extracting DNA from circulating white cells.
Timepoint [1] 305638 0
2 years after baseline testing
Primary outcome [2] 305641 0
left ventricular mass index (LVMi) on cardiac magnetic resonance imaging (CMR)
Timepoint [2] 305641 0
2 years after baseline testing
Secondary outcome [1] 346005 0
Assess the changes in cardiac structure (cardiac mass and geometry) by measurement of LV and RV volumes and myocardial mass using cardiac magnetic resonance (CMR) with gadolinium contrast
Timepoint [1] 346005 0
baseline, 2 years
Secondary outcome [2] 346007 0
Assess fitness status by VO2 max (measurement of maximum oxygen metabolism) test on bicycle ergometer with metabolic cart
Timepoint [2] 346007 0
baseline, two years, 5 years and every 5 years after that for 25 years.
Secondary outcome [3] 346137 0
Assess the prevalence of cardiac arrhythmia's on electrocardiogram and 24h holter monitoring
Timepoint [3] 346137 0
baseline, two years, 5 years and every 5 years after that for 25 years
Secondary outcome [4] 346139 0
Assessment of myocardial fibrosis using T1-weighted inversion recovery times on cardiac MRI
Timepoint [4] 346139 0
Baseline and 2 years
Secondary outcome [5] 346140 0
Measurement of torsion, strain and strain rate using transthoracic echocardiogram, including Doppler and 3D volumetric acquisitions.
Timepoint [5] 346140 0
baseline, 2 years
Secondary outcome [6] 346141 0
Blood samples to measure fasting lipid profile, cardiac biomarkers (Troponin I, Brain Natriuretic Peptide), Hs_CRP, FBE and U&E.
Timepoint [6] 346141 0
baseline, two years
Secondary outcome [7] 346142 0
Resting blood pressure and blood pressure response during exercise measured in office after lying supine for 10 minutes and during the VO2 max test
Timepoint [7] 346142 0
baseline, 2 years
Secondary outcome [8] 346144 0
Measurement of body composition and bone mineral density by a dual energy X-ray absorptiometry (DEXA) scan (whole body, spine and hip scan)
Timepoint [8] 346144 0
baseline, two years.
Secondary outcome [9] 346147 0
Quantify exercise duration and intensity during one week from self-report on an exercise diary or by recording on an electronic fitness device
Timepoint [9] 346147 0
baseline, two years

Key inclusion criteria
Endurance athletes, male and female, aged 16-23 years, competing in endurance sports in which aerobic fitness conditioning is a principal component of performance. Aiming to be involved in competition and high level training for more than 5 years.
Non-athletes, male and female, aged 16-23 years, less than 2 hours of endurance activity per week, not competing in an endurance sport, not enrolled in a fitness program to improve fitness.
Minimum age
16 Years
Maximum age
23 Years
Both males and females
Can healthy volunteers participate?
Key exclusion criteria
- Known cardiovascular disease
- Cigarette smoking (current or previous)
- Moderate or severe hypertension.
- Use of performance enhancing drugs.
- A contraindication to magnetic resonance imaging

Study design
Defined population
Statistical methods / analysis
Prospective exercise cohort (320 athletes; 220 males, 100 females)
Non-athletic controls (110 males, 50 females)
The reason for recruiting a cohort of approximately two-thirds male is a pragmatic balance between opportunities for recruitment, given greater male participation in endurance sport, balanced against the opportunity to provide female athletic data which is under-represented in the scientific literature.

Recruitment status
Date of first participant enrolment
Date of last participant enrolment
Date of last data collection
Sample size
Accrual to date
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 10780 0
Baker Heart and Diabetes Institute - Melbourne
Recruitment hospital [2] 10781 0
South Australian Health and Medical Research Institute (SAHMRI) - Adelaide
Recruitment postcode(s) [1] 22518 0
3004 - Melbourne
Recruitment postcode(s) [2] 22519 0
5000 - Adelaide
Recruitment outside Australia
Country [1] 10351 0
State/province [1] 10351 0
Antwerp, Brabant

Funding & Sponsors
Funding source category [1] 299311 0
Government body
Name [1] 299311 0
NHMRC APP1109322
Address [1] 299311 0
Research Committee Secretariat NHMRC GPO Box 1421 Canberra ACT 2601
Country [1] 299311 0
Funding source category [2] 299315 0
Name [2] 299315 0
National Heart Foundation
Address [2] 299315 0
2/850 Collins St, Melbourne VIC 3008
Country [2] 299315 0
Primary sponsor type
Baker Heart and Diabetes Institute
99 Commercial Road
VIC 3004
Secondary sponsor category [1] 298580 0
Name [1] 298580 0
Address [1] 298580 0
Country [1] 298580 0

Ethics approval
Ethics application status
Ethics committee name [1] 300221 0
Alfred Hospital Ethics Committee
Ethics committee address [1] 300221 0
55 Commercial Road
VIC 3004
Ethics committee country [1] 300221 0
Date submitted for ethics approval [1] 300221 0
Approval date [1] 300221 0
Ethics approval number [1] 300221 0

Brief summary
The heart can be stimulated to change its size and shape. The heart changing size and shape is a normal adaptation; however, in certain cases this adaptation can become harmful.
Change in heart structure predicts heart events (eg. congestive heart failure, abnormal heart beats). Heart size and shape varies considerably between people; it is currently unknown what accounts for most of this variability. Previous studies suggest a genetic contribution; however, no studies have yet identified the specific changes in a person’s genetic makeup which explain why one person has a bigger heart than another.
This study aims to identify rare variants in specific genes that are related to abnormal changes in heart structure. This study will do so by tracking changes in heart structure related to endurance exercise training as well as normal aging. Endurance athletes with the greatest change in heart structure will have select genes compared to endurance athletes with the least change in heart structure after 2 years of training. Additionally these gene profiles will be compared to non-endurance athletes who have the greatest and least change in heart structure over a 2-year period. In this way investigators can identify which gene variants are related to highly adaptive versus less adaptive hearts.
Identifying gene variants related to heart size may help identify individuals at risk of abnormalities in which the heart enlarges too much. Identifying at-risk individuals allows doctors to identify people who may benefit from advice or treatments that may prevent problems from developing.

Trial website
Trial related presentations / publications
Public notes

Principal investigator
Name 82962 0
A/Prof Andre La Gerche
Address 82962 0
Baker Heart and Diabetes Institute
Alfred Centre, level 4
99 commercial Road
VIC 3004
Country 82962 0
Phone 82962 0
+61 3 8532 1169
Fax 82962 0
Email 82962 0
Contact person for public queries
Name 82963 0
Ms Kristel Janssens
Address 82963 0
Baker Heart and Diabetes Institute
Alfred Centre, level 4
99 commercial Road
VIC 3004
Country 82963 0
Phone 82963 0
+61 3 8532 1169
Fax 82963 0
Email 82963 0
Contact person for scientific queries
Name 82964 0
A/Prof Andre La Gerche
Address 82964 0
Baker Heart and Diabetes Institute
Alfred Centre, level 4
99 commercial Road
VIC 3004
Country 82964 0
Phone 82964 0
+61 3 8532 1169
Fax 82964 0
Email 82964 0

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No/undecided IPD sharing reason/comment
What supporting documents are/will be available?
No other documents available
Summary results
No Results