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

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 <10^th 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)

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
^*Race was not reported for three patients enrolled and treated in France in compliance with that country’s regulations
^†Patients were required to meet at least one of these criteria

ISSN: 1750-1172