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

Sanofi

Status

Active, not recruiting

Conditions

Fabry Disease

Study type

Observational

Funder types

Industry

Identifiers

NCT06052800

OBS17349

U1111-1287-7177 (Registry Identifier)

Details and patient eligibility

About

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.

Full description

Study Design Time Perspective: Retrospective and Prospective

Enrollment

78 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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)