Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study

Summary

This is a prospective observational study. All patients will initiate and maintain treatment with agalsidase alfa during the study period. All patients will receive a full standard of care concomitant medication for the treatment of their cardiac condition. Twenty-five patients with genetically confirmed Anderson-Fabry disease will undergo PET-CMR at baseline and after 12 months of treatment with Agalsidase Alfa for follow-up.

Eligibility

Inclusion Criteria:

* Patients aged 15-75 years with Fabry disease confirmed by enzyme assay and gene test
* Patients have not undergone ERT for more than 12 months or patients have not used Agalsidase Alfa in the last 12 months.
* Patients who have cardiac involvement of Fabry disease (end diastolic maximal wall thickness ≥ 12mm on echocardiography or CMR, decreased native T1 value on CMR, unexplained distinct diastolic dysfunction, unexplained decreased global longitudinal strain on 2D strain echocardiography, or biopsy-proven cardiac involvement)
* Patients provided written informed consent to participate in this study
* The patient, or patient's legally authorized representative(s), if applicable, understands the nature, scope, and possible consequences of the study and has provided written informed consent that has been approved by the Institutional Review Board/Independent Ethics Committee
* The patient must be sufficiently cooperative to participate in this clinical study as judged by the investigator.

Exclusion Criteria:

* Contraindication for enzyme replacement treatment with Agalsidase Alfa
* Patients have previously been treated with Agalsidase Alfa for \> 12 months
* Patients unable to undergo PET-CMR due to any condition
* Patients who are pregnant
* Patients who have active malignancy
* Subject who the investigator deems inappropriate to participate in this study

Conditions2

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