Discovery of New Biomarkers of Cardiac Susceptibility in adults with Fabry Disease that may be used to develop Targeted Fabry-Specific Therapy Delivery

Not Applicable

Active, not recruiting

Conditions: Fabry Disease
Human Genetics and Inherited Disorders - Other human genetics and inherited disorders
Metabolic and Endocrine - Metabolic disorders

Registration Number: ACTRN12622000418774

Lead Sponsor: The University of Sydney

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Active, not recruiting

Sex: All

Target Recruitment: 50

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

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

Study Type: Observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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)[ Assessed at the time of enrolment.]

Secondary Outcome Measures

Name	Time	Method
V mass (indexed) by cardiac MRI[ Assessed at the time of enrolment ];Late gadolinium enhancement (LGE) by cardiac MRI[ Assessed at the time of enrolment ];T1 measurements by cardiac MRI[ Assessed at the time of enrolment];ECG evidence of conduction abnormality[ Assessed at the time of enrolment];Echocardiography parameters of circumference left ventricular scarring[ Assessed at the time of enrolment ];Genomic, epigenetic, transcriptomic, proteomic, metabolic, cell bionic, and coagulomic data markers of Fabry-specific cardiac involvement[ Assessed at the time of enrolment];Echocardiography parameters of longitudinal left ventricular scarring[ Assessed at the time of enrolment]