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.
Study Design Time Perspective: Retrospective and Prospective
Study Type
OBSERVATIONAL
Enrollment
78
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
Cohort 1: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
Time frame: through study completion with a minimum of 2 years
Cohort 2: change of Left ventricular mass index (LVMI) as measured by echocardiography in agalsidase beta-treated patients
Time frame: up to 1.5 years
Change of Left posterior wall thickness (LPWT) as measured by echocardiography
Time frame: For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years
Change of Interventricular septal thickness (IVST) as measured by echocardiography
Time frame: For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years
Change of blood Globotriaosylsphingosine (lyso-Gb3) concentration
Time frame: For cohort 1, through study completion with a minimum of 2 years For cohort 2, 1.5 years For cohort 3, through study completion with a minimum of 1.5 years
Change of left ventricular mass index (LVMI) as measured by echocardiography in ERT-naive patients
Time frame: For cohort 3, through study completion with a minimum of 1.5 years
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