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Table 1 Patient demographics and baseline disease characteristics (full analysis set)

From: Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Parameter Patients (N = 9)
Age at treatment initiation, months
 Median (range) 3.0 (1.1–5.8)
Gender, n (%)
 Male 5 (56)
 Female 4 (44)
Race
 White 4 (44)
 Black 1 (11)
 Asian 1 (11)
 Unknown* 3 (33)
Age at symptom onset, months
 Range 0–5.0
Age at diagnosis, months
 Range 0–5.8
LAL deficiency manifestations, n (%)
 Hepatosplenomegaly 9 (100)
 Abdominal distension 9 (100)
 Vomiting 9 (100)
 Diarrhea 9 (100)
 Adrenal calcifications 9 (100)
 Failure to thrive 9 (100)
 Anemia 6 (67)
 Ascites 4 (44)
 Thrombocytopenia (<150 × 109/L) 3 (33)
Hematological parameters, median (range)
 Hemoglobin, g/L 93 (1.4–103.0)
 Platelets, 109/L 173 (2.6–563)
 Serum ferritin, μg/L, median (range) 586 (253–48,740)
Multiple organ dysfunction syndrome, n (%) 3 (33)
Growth failure/entry criteria met, n (%)
 Weight decreasing across ≥2 of the 11 major centiles 7 (78)
 Body weight <10th centile and no weight increase during 2 weeks before screening 1 (11)
 Loss of >5% of birth weight after 2 weeks of age 0
 Rapidly progressive course of LAL deficiency without meeting growth failure criteria 1 (11)
  1. All hematological analyses were performed by local laboratories; assessment of normal/abnormal results was based on the age- and gender-specific normal range provided by the local laboratory at the time of the test
  2. *Race was not reported for three patients enrolled and treated in France in compliance with that country’s regulations
  3. Patients were required to meet at least one of these criteria