Fig. 3: Changes over time in efficacy assessments (hepatosplenomegaly, liver transaminases, lung diffusion capacity, plasma lipids, and height) with olipudase alfa treatment. | Genetics in Medicine

Fig. 3: Changes over time in efficacy assessments (hepatosplenomegaly, liver transaminases, lung diffusion capacity, plasma lipids, and height) with olipudase alfa treatment.

From: One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Fig. 3

(a, b) Individual patient responses for spleen volumes in multiples of normal (MN) and the percent change from baseline for spleen volumes in least square mean (LSM) ± standard error of the mean (SEM), respectively at 6 months and 1 year. Cutoffs of MN for severity categories are indicated by shading. (c,d) Individual patient responses for liver volumes in MN and the percent change from baseline for spleen and liver volumes in LSM ± SEM, respectively at 6 months and 1 year. Cutoffs of MN for severity categories are indicated by shading. (e,f) Mean (±SD) preinfusion plasma levels for aspartate aminotransferase (AST) and alanine aminotransferase (ALT), respectively, for the overall patient population and the means for each age group at baseline and throughout treatment with olipudase alfa. The AST and ALT upper limit of normal (ULN) for the for the adolescent, child, and infant/early child groups is 40, 59, and 69 IU/L and 43, 34, and 34 IU/L, respectively (values the same in U/L). Ranges of ULN are indicated by gray boxes. (g, h) individual patient responses and LSM ± SEM percent change from baseline for the percent predicted DLCO adjusted for hemoglobin. Cutoffs for gas exchange impairment are indicated. (i) Plasma lipid mean (±SD) for the overall population and means for each age group for total cholesterol, low density lipid cholesterol (LDL-C), high density lipid cholesterol (HDL-C), and triglycerides (TG). Low to high ranges of normal for total cholesterol: 4.4–5.15 mmol/L ( <170–199 mg/dL). Low to high ranges of normal for LDL-C: adolescent: 1.60 to 3.52 mmol/L, child: 1.63 to 3.63 mmol/L, infant/early child: 0.98 to 3.63 mmol/L (38–140 mg/dL); for TG: adolescent: 0.36 to 1.67 mmol/L, child: 0.34 to 1.48 mmol/L, infant/early child: 0.34 to 1.24 mmol/L (32–149 mg/dL); for HDL-C: adolescent: 0.78 to 1.92 mmol/L, child: 0.93 to 1.94 mmol/L, infant/early child: not reported (30–75 mg/dL). (j) Individual patient height Z-scores (graph) and the LSM changes from baseline with p values (inset table) over time.

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