The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

Figure 4

Changes in (a) Metabolism. (b) Renal. (c) Cardiac Parameters with treatment at different stages in two cases of FD. α‐Gal A is expressed as a percentage of normal (% normal). Normal white blood cell activity: 22 nmol free 4 MU released/mg protein/h⁷ (patient 1); normal laboratory reference activity on dried blood spots samples: 4.7–18.8 μmol/L/h (patient 2); normal Lyso-Gb3: ≤0.6 nm/L; normal urine GL-3: <33.8 ng/mL; normal protein excretion rate: <150 mg/24 hours; normal eGFR: >90 mL/min/1.73 m²; normal UACR: <3 mg/mmol; normal LVMI: 43–95 g/m²; normal LVPWT: 6–10 mm; normal IVSD: 6–9 mm. Dotted lines define the end of study (case 1) or treatment switch (case 2). In the cardiac parameters graph of case 1, gaps indicate a different method of measurement. Case 1: urine GL-3 and GL-3 inclusions were measured up to month 12 of the FACETS study; LVMI and LVM not measured at 8, 9, and 10 months; LVPWT measured upto 12 months of the FACETS study; case 2: UACR and LVPWT not measured at years 3 and 4. ^aNCT00925301, ^bAT1001-041; ^cAT1001-042. α‐Gal A, alpha-galactosidase A; eGFR, estimated glomerular filtration rate; FD, Fabry disease; GL-3, globotriaosylceramide; IVSD, interventricular septal thickness at end diastole; LVMI, left ventricular mass index; LVPWT, left ventricular posterior wall thickness; Lyso-Gb3, globotriaosylsphingosine; OLE, open-label extension; UACR, urine albumin-to-creatinine ratio.

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