Trial Review

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Trial registered on ANZCTR


Registration number
ACTRN12622000418774
Ethics application status
Approved
Date submitted
2/03/2022
Date registered
11/03/2022
Date last updated
21/01/2024
Date data sharing statement initially provided
11/03/2022
Type of registration
Prospectively registered

Titles & IDs
Public title
Discovery of New Biomarkers of Cardiac Susceptibility in adults with Fabry Disease that may be used to develop Targeted Fabry-Specific Therapy Delivery
Scientific title
Discovery of New Biomarkers of Cardiac Susceptibility in Fabry Disease that may be used to Improve the Precision of Targeted Fabry-Specific Therapy Delivery
Secondary ID [1] 304403 0
Nil
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Fabry Disease 322197 0
Condition category
Condition code
Human Genetics and Inherited Disorders 319887 319887 0 0
Other human genetics and inherited disorders
Metabolic and Endocrine 322895 322895 0 0
Metabolic disorders

Intervention/exposure
Study type
Observational
Patient registry
False
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
The BioHEART-Fabry study seeks to understand the prevalence of heart involvement in participants with Fabry disease. In addition, participants will undergo a research blood draw that will be used to generate a detailed molecular endotype of Fabry disease participants, including genomic, transcriptomic, proteomic, metabolomic, and cell biomic. The molecular analyses will be applied to an assay to identify "myocardial-vulnerable" Fabry patients.

BioHEART-Fabry participants will complete a questionnaire at the time of enrolment, which is expected to take approximately 10 minutes. If the participant is having a clinically indicated cardiac MRI (CMR), a blood draw of approximately 30mL will be completed at the time of the CMR. If the participant is not having a CMR, a blood draw will occur at the time of enrolment. Participants will not receive a copy of the results of the research blood draw.

Participants will follow-up with the research team one (1) year after enrolment and complete a second questionnaire, that is expected to take approximately 10 minutes.
Intervention code [1] 320759 0
Diagnosis / Prognosis
Comparator / control treatment
No control group
Control group
Uncontrolled

Outcomes
Primary outcome [1] 327764 0
The primary outcome of the study is the composite CMR endpoint for cardiac involvement: a) Elevated LV mass index; or b) Abnormal T1 or late gadolinium enhancement (LGE)
Timepoint [1] 327764 0
Assessed at the time of enrolment.
Secondary outcome [1] 396507 0
LV mass (indexed) by cardiac MRI
Timepoint [1] 396507 0
Assessed at the time of enrolment
Secondary outcome [2] 407150 0
Late gadolinium enhancement (LGE) by cardiac MRI
Timepoint [2] 407150 0
Assessed at the time of enrolment
Secondary outcome [3] 407151 0
T1 measurements by cardiac MRI
Timepoint [3] 407151 0
Assessed at the time of enrolment
Secondary outcome [4] 407152 0
ECG evidence of conduction abnormality
Timepoint [4] 407152 0
Assessed at the time of enrolment
Secondary outcome [5] 407153 0
Echocardiography parameters of circumference left ventricular scarring
Timepoint [5] 407153 0
Assessed at the time of enrolment
Secondary outcome [6] 407154 0
Genomic, epigenetic, transcriptomic, proteomic, metabolic, cell bionic, and coagulomic data markers of Fabry-specific cardiac involvement
Timepoint [6] 407154 0
Assessed at the time of enrolment
Secondary outcome [7] 407313 0
Echocardiography parameters of longitudinal left ventricular scarring
Timepoint [7] 407313 0
Assessed at the time of enrolment

Eligibility
Key inclusion criteria
a) Age 18 years or older
b) Males and females
c) Genetically confirmed Fabry disease
d) Indication for a CMR, or appropriate historical CMR study within 36-months of enrolment; and
e) Willing and able to provide informed consent by self
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
a) Patients highly dependent on medical care and unable to provide informed consent;
b) Unwilling or unable to participate in 1-year follow-up
c) People with cognitive impairment, intellectual disability, or mental illness that prevent them from providing informed consent for themselves.

Study design
Purpose
Duration
Cross-sectional
Selection
Defined population
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Date of first participant enrolment
Anticipated
2/05/2022
Actual
20/06/2022
Date of last participant enrolment
Anticipated
1/06/2024
Actual
Date of last data collection
Anticipated
1/08/2024
Actual
Sample size
Target
50
Accrual to date
42
Final
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 19627 0
Westmead Hospital - Westmead
Recruitment postcode(s) [1] 34260 0
2145 - Westmead

Funding & Sponsors
Funding source category [1] 308771 0
Commercial sector/Industry
Name [1] 308771 0
Sanofi-aventis Australia
Country [1] 308771 0
Australia
Primary sponsor type
University
Name
The University of Sydney
Address
The University of Sydney, Camperdown NSW 2006
Country
Australia
Secondary sponsor category [1] 311001 0
None
Name [1] 311001 0
Address [1] 311001 0
Country [1] 311001 0

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 308686 0
Northern Sydney Local Health District - Human Research Ethics Committee
Ethics committee address [1] 308686 0
NSLHD Research Office, Level 13 Kolling Building, Royal North Shore Hospital, Reserve Road, St Leonards NSW 2065
Ethics committee country [1] 308686 0
Australia
Date submitted for ethics approval [1] 308686 0
17/03/2021
Approval date [1] 308686 0
25/05/2021
Ethics approval number [1] 308686 0
2021/ETH00499

Summary
Brief summary
Cardiac involvement remains one of the biggest killers in Fabry disease. Yet our ability predict cardiac involvement before irreversible damage occurs remains limited. The chief reason for this is the differences in Fabry disease presentation that remains unexplained by biomarker or predictable natural history. Current tools, such as biomarkers (e.g., enzyme activity level, plasma Gb3, etc.) and genetic testing give a good measure of 'general' Fabry progression or diagnosis; but these are non-specific to phenotype or individual organ involvement. Further insight into which patients are at risk of developing heart complications would direct clinicians to consider commencement of Fabry-specific therapy in potentially high-risk patients. Markers and mechanistic insights that explain individual susceptibility to cardiac fibrosis and hypertrophy in the context of Fabry disease may also have broader implications to understanding heart failure and cardiomyopathy more broadly.
Trial website
Trial related presentations / publications
Public notes
The BioHEART-Fabry study is an investigator-initiated study (ISS), with funding partially provided by Sanofi-aventis Australia through the ISS funding mechanism.

Contacts
Principal investigator
Name 111554 0
Prof Gemma Figtree
Address 111554 0
Level 12 Kolling Building, Royal North Shore Hospital, Reserve Road, St Leonards NSW 2065
Country 111554 0
Australia
Phone 111554 0
+61 2 9926 4915
Fax 111554 0
Email 111554 0
[email protected]
Contact person for public queries
Name 111555 0
Prof Gemma Figtree
Address 111555 0
Level 12 Kolling Building, Royal North Shore Hospital, Reserve Road, St Leonards NSW 2065
Country 111555 0
Australia
Phone 111555 0
+61 2 9926 4915
Fax 111555 0
Email 111555 0
[email protected]
Contact person for scientific queries
Name 111556 0
Prof Gemma Figtree
Address 111556 0
Level 12 Kolling Building, Royal North Shore Hospital, Reserve Road, St Leonards NSW 2065
Country 111556 0
Australia
Phone 111556 0
+61 2 9926 4915
Fax 111556 0
Email 111556 0
[email protected]

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
No/undecided IPD sharing reason/comment


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
No additional documents have been identified.