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

NCT07235709 | Recruiting

• 1 other identifier: 4-2025-1005
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

• To evaluate the impact of ERT with Agalsidase Alfa on change of myocardial inflammation in patients with Fabry's cardiomyopathy using PET-CMR.

  To evaluate the impact of ERT with Agalsidase Alfa on change of myocardial inflammation in patients with Fabry's cardiomyopathy using PET-CMR.

  1 year

Secondary Outcomes (5)

• To evaluate myocardial inflammation in patients with Fabry disease before ERT

  1 year

• To evaluate myocardial inflammation in patients with Fabry disease during ERT

  1 year

• To evaluate myocardial fibrosis in patients with Fabry disease before ERT

  1 year

• To evaluate myocardial fibrosis in patients with Fabry disease during ERT

  1 year

• To evaluate cardiac cardiac sympathetic nerve dysfunction during ERT

  1 year

Study Arms (1)

Fabry's disease

atients aged 15-75 years with Fabry disease confirmed by enzyme assay and gene test

Eligibility Criteria

• Age: 15 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients aged 15 \~ 75 years with Fabry disease confirmed by enzyme assay and gene test

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Yonsei University: lead

Study Sites (1)

Division of Cardiology, Yonsei Cardiovascular Hospital, Yonsei University College of Medicine

Seoul, 03722, South Korea

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2025
• First Posted: November 19, 2025
• Study Start: November 12, 2025
• Primary Completion (Estimated): June 1, 2029
• Study Completion (Estimated): November 1, 2029
• Last Updated: December 1, 2025

Record last verified: 2025-11

Locations

KR (1)