Agalsidase alfa for heart inflammation in Fabry disease measured by PET‑CMR

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a prospective observational study enrolling 25 patients with genetically confirmed Fabry disease and cardiac involvement who will start and continue agalsidase alfa while receiving standard cardiac care. Participants receive baseline evaluations including labs, ECG, echocardiography with strain, quality-of-life questionnaires, and an [18F]-FDG PET‑CMR, with a repeat PET‑CMR and follow-up testing after 12 months of treatment. Optional MIBG cardiac scintigraphy and serial biomarker panels (including NT-proBNP, troponin T, lyso‑Gb3, inflammatory markers) will be collected to correlate imaging and laboratory measures. The study aims to describe changes in cardiac inflammation and related cardiac parameters over one year of enzyme replacement therapy.

Why it matters

Who can join: the full rules

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

Where it's running

• Division of Cardiology, Yonsei Cardiovascular Hospital, Yonsei University College of Medicine
  Seoul, South Korea Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.