Table 1 Demographics and baseline characteristics by age group and overall population.
Adolescent | Child | Infant/early child | Overall | |
|---|---|---|---|---|
(N = 4) | (N = 9) | (N = 7) | (N = 20) | |
Number of patients (%) | ||||
Age (years) | ||||
Mean (SD) | 14.84 (2.22) | 8.69 (1.69) | 3.77 (1.44) | 8.20 (4.39) |
Median | 14.8 | 8.72 | 3.75 | 7.99 |
Min:Max | 12.32:17.46 | 6.00:11.52 | 1.49:5.57 | 1.49:17.46 |
Sex, n % | ||||
Female | 3 (75) | 4 (44) | 3 (43) | 10 (50) |
Male | 1 (25) | 5 (56) | 4 (57) | 10 (50) |
Race, n (%) | ||||
White | 3 (75) | 7 (78) | 7 (100) | 17 (85) |
Southeast Asian | 1 (25) | 1 (11) | 0 | 2 (10) |
Other | 0 | 1 (11) | 0 | 1 (5) |
Ethnicity, n (%) | ||||
Hispanic/Latino | 0 | 0 | 1 (14) | 1 (5) |
Not Hispanic/Latino | 4 (100) | 9 (100) | 6 (86) | 19 (95) |
Age at symptom onset (years) | ||||
Mean (SD) | 1.370 (0.581) | 1.633 (1.295) | 1.170 (0.903) | 1.420 (1.017) |
Median | 1.277 | 1.187 | 0.985 | 1.027 |
Min:Max | 0.84:2.09 | 0.38:3.92 | 0.16:2.54 | 0.16:3.92 |
Age at diagnosis (years) | ||||
Mean (SD) | 2.124 (0.708) | 3.358 (3.360) | 1.551 (1.200) | 2.478 (2.449) |
Median | 1.993 | 2.839 | 1.183 | 1.932 |
Min:Max | 1.42:3.09 | 0.02:11.09 | 0.21:3.10 | 0.02:11.09 |
ASM activity (peripheral leukocytes) nmol/h/mg | ||||
Mean (SD) | 0.210 (0.092) | 0.129 (0.061) | 0.095 (0.067) | 0.135 (0.078) |
Median | 0.225 | 0.130 | 0.085 | 0.120 |
Min:Max | 0.09:0.30 | 0.00:0.20 | 0.03:0.22 | 0.00:0.30 |
SMPD1 variant | ||||
Homozygous for p.Arg610del | 0 | 0 | 0 | 0 |
Heterozygous for p.Arg610del | 1 (25.0%) | 3 (33.3%) | 2 (28.6%) | 6 (30.0%) |
Other variants | 3 (75.0%) | 6 (66.7%) | 5 (71.4%) | 14 (70.0%) |
Fully intact spleens | 4 (100%) | 9 (100%) | 7 (100%) | 20 (100%) |
Severe splenomegaly (>15 multiples of normal) | 1 (25.0%) | 5 (55.6%) | 6 (85.7%) | 12 (60.0%) |
Severely reduced DLco (<40%) | 1 (33.3%) | 0 | 0 | 1 (11.1%)a |
