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Table 1 Baseline patient demographic and disease characteristics (full analysis set)

From: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

Parameter VITAL
(N = 9)
CL08
(N = 10)
Age at first dose, months, median (range) 3.0 (1–6) 2.8 (0.5–4)
Sex, n (%)   
 Male 5 (56) 5 (50)
 Female 4 (44) 5 (50)
Race, n (%)   
 American Indian or Alaska Native 0 1 (10)
 Asian 1 (11) 6 (60)
 Black 1 (11) 0
 White 4 (44) 1 (10)
 Other 0 2 (20)
 Unknown 3 (33) 0
Anthropometric parameters, median (IQR)   
 Weight-for-age, WHO percentilea 3.1 (1–8)b 1.1 (0.0–8)
 Length (height)-for-age, WHO percentilea 1.8 (0.1–39)b 2.9 (0.6–50)c
 Mid-upper arm circumference-for-age, WHO percentilea 0.01 (0.0–0.3)d 0.001 (0.0–0.3)e
Liver parameters, median (range)   
 ALT   
  U/L 145.0 (16–297) 37.0 (28–248)c
  µkat/L 2.42 (0.3–5.0) 0.62 (0.5–4.1)c
 AST   
  U/L 125.0 (71–716) 99.5 (56–441)b
  µkat/L 2.09 (1.2–12.0) 1.66 (0.9–7.4)b
 Ferritin   
  µg/L (ng/mL) 586.3 (253–48,740)f 1750.5 (481–3020)g
 Albumin, g/L 29.0 (13–40) 20.0 (18–29)c
 Total bilirubin   
  mg/dL 1.7 (0.2–27) 0.7 (0.2–3)
  µmol/L 29.0 (3–464)b 12.0 (4–52)c
Hematologic parameters, median (range)   
 Hemoglobin, g/L 93.0 (1–103) 90.0 (81–131)f
 Platelets, 109/L 173.0 (3–563) 146.0 (56–235)f
LAL-D manifestations, n (%)   
 Hepatomegaly and/or splenomegaly 9 (100) 9 (90)
 Diarrhea and/or vomiting 9 (100) 9 (90)
 Adrenal calcification 9 (100) 5 (50)
 Failure to thrive/malnutrition 9 (100) 5 (50)
Liver volume, MN, median (range) 3.4 (3–4)h 3.2 (0.1–4)f
Spleen volume, MN, median (range) 7.0 (3–10)g 5.8 (0.7–15)b
  1. ALT alanine aminotransferase, AST aspartate aminotransferase, CDC Centers for Disease Control and Prevention, IQR interquartile range, LAL-D lysosomal acid lipase deficiency, MN multiples of normal, WHO World Health Organization
  2. aBased on WHO Multicenter Growth Reference Study Group, 2006 and 2007 WHO Child Growth Standards [18, 19]. After age 2, standardization is based on 2000 CDC Growth Chart [20]
  3. bn = 8
  4. cn = 9
  5. dn = 4
  6. en = 5
  7. fn = 7
  8. gn = 2
  9. hn = 3