Agalsidase alfa for heart inflammation in Fabry disease measured by PET‑CMR
Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study (ESCAPE-FABRY Trial)
This study will test whether agalsidase alfa reduces heart inflammation in people with Fabry disease by comparing PET‑CMR scans before and after 12 months of treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 15 Years to 75 Years |
| Sex | All |
| Sponsor | Yonsei University Academic / other |
| Locations | 1 site (Seoul) |
| Trial ID | NCT07235709 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are people aged 15–75 with genetically confirmed Fabry disease who have cardiac involvement and who have not received agalsidase alfa or other enzyme replacement for more than 12 months prior to enrollment.
Not a fit: Patients without cardiac involvement, those already on recent or long-term enzyme replacement including agalsidase alfa within the past 12 months, or those unable to undergo PET‑CMR are unlikely to benefit from this protocol.
Why it matters
Potential benefit: If successful, the results could show that agalsidase alfa reduces cardiac inflammation and help guide treatment timing and monitoring to prevent progressive heart damage in Fabry disease.
How similar studies have performed: Enzyme replacement with agalsidase alfa has shown cardiac benefits in prior clinical work, but using [18F]-FDG PET‑CMR specifically to measure and track cardiac inflammation is relatively novel with limited prior data.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Seoul
- Division of Cardiology, Yonsei Cardiovascular Hospital, Yonsei University College of Medicine — Seoul, South Korea (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.