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

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 percentile^a

3.1 (1–8)^b

1.1 (0.0–8)

 Length (height)-for-age, WHO percentile^a

1.8 (0.1–39)^b

2.9 (0.6–50)^c

 Mid-upper arm circumference-for-age, WHO percentile^a

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