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

Study Design Time Perspective: Retrospective and Prospective

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 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)