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