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Clinical Trials in Taiwan / NCT06052800
Active, not recruiting Observational

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

NCT06052800 · tracked via the Priya Life Science Taiwan tracker
Sponsor
Phase
Observational
Started
2023-09-13
Last updated
2026-05-15

Condition(s) studied

Fabry Disease

Study 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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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: 1. cardiac parameter abnormalities (e.g. via imaging, electrophysiology, or biomarker); 2. at least one FD-related sign/symptom. * The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 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)

Primary outcome measure(s)

Trial sites (5)

FacilityCityRegionStatus
Investigational Site Number : 1580004 Taichung Taiwan
Investigational Site Number : 1580005 Tainan Taiwan
Investigational Site Number : 1580001 Taipei Taiwan
Investigational Site Number : 1580003 Taipei Taiwan
Investigational Site Number : 1580002 Taipei Taiwan

More Sanofi trials in Taiwan

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06052800 on ClinicalTrials.gov ↗ ← All trials in Taiwan