Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan

  • STATUS
    Recruiting
  • End date
    Sep 4, 2026
  • participants needed
    100
  • sponsor
    Sanofi
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Updated on 15 November 2023
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Summary

This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female Fabry disease adult patients who carry the GLA IVS4.

This study aims to retrospectively and prospectively investigate the disease natural history, clinical manifestations, and the treatment outcomes upon agalsidase beta in Fabry disease (FD) patients carrying the GLA IVS4 mutation from medical records, physician assessments, and patient-reported outcomes.

Description

Study Design Time Perspective: Retrospective and Prospective

Details
Condition Fabry Disease
Age 18years or above
Clinical Study IdentifierNCT06052800
SponsorSanofi
Last Modified on15 November 2023

Eligibility

 Yes No Not Sure

Inclusion Criteria

Provide signed informed consent
Cohort 1
Male or female Fabry disease patient with documented GLA IVS4 in medical record
Age ≥ 18 years old at the time of signing informed consent
The maximum proportion of female is 20% of cohort 1
Patient who has received agalsidase beta treatment for at least 6 months
The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation
Cohort 2
Male or female Fabry disease patient with documented GLA IVS4 in medical record
Age ≥ 18 years old at the time of signing informed consent
The maximum proportion of female is 20% of cohort 2
Patient who plans to apply for the National Health Insurance Reimbursement for agalsidase beta medication
The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation
Cohort 3
Male or female Fabry disease patients with documented GLA IVS4 mutation in medical record
Male patient is aged ≥ 30 years old and female patient is aged ≥ 40 years old at the time of signing informed consent
The maximum proportion of female is 20% of cohort 3
Patient who has never received agalsidase alpha or agalsidase beta treatment (ERT-naïve)
Elevated blood lyso-Gb3
At least ONE of the following conditions documented in medical record
cardiac parameter abnormalities (e.g. via imaging, electrophysiology, or biomarker)
at least one FD-related sign/symptom
The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within
months
Patients who are expected not to receive ERT or FD-specific treatment per investigator's judgement

Exclusion Criteria

Any condition that, in the opinion of the Investigator, may interfere with patient's participation in the study, such as life expectancy of less than 6 months (e.g. diagnosed with malignancy, CAD)
Fabry patients who have severe heart disease (NYHA Class IV) or severe myocardial fibrosis per investigator judgement
Known non-Fabry disease infiltrative cardiomyopathy including amyloidosis
Known non-GLA genetic (e.g., sarcomeric, metabolic mutations) hypertrophic cardiomyopathy
Patients who are receiving any Fabry disease-specific treatment (enzyme replacement therapy, chaperone therapy, substrate reduction therapy, or gene therapy) other than agalsidase beta for Fabry disease
Pregnancy or suspected pregnancy
Patient diagnosed with moderate to severe dementia
Unstable patient condition as judged by investigator (e.g., hypertension, diabetes, and systematic disease)
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