None listed
Conditions
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.
Interventions
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 questio
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.
Sponsors
The University of Sydney
Eligibility
Sex/Gender
All
Age
18 Years to No maximum
Healthy volunteers
No
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.
Outcome results
None listed