Table 1.
Demographic and baseline clinical characteristics of the SMA patients included in this study.
| SMA Type | Type 1 (n = 10) | Type 2 (n = 18) | Type 3 (n = 21) | Total (n = 49) |
|---|---|---|---|---|
| Age (median, range) | 9 m (3 m–15 y) | 17 y (1 y–50 y) | 32 y (1 y–65 y) | 18 y (3 m–65 y) |
| Disease duration at treatment initiation in years (median, range) | 0.7 (0.2–15.4) | 16.4 (1.0–50.2) | 26.7 (1.0–50.6) | 17.5 (0.2–50.6) |
| Gender (M/F) | 3/7 | 10/8 | 14/7 | 27/22 |
| SMN2 copy numbers * (n, %) | ||||
| 2 SMN2 | 8 (100%) | 0 | 1 (5%) * | 9 (18%) |
| 3 SMN2 | 0 | 16 (89%) | 11 (53%) * | 27 (55%) |
| ≥4 SMN2 | 0 | 0 | 9 (43%) | 9 (18%) |
| Unknown | 2 | 2 † | 0 | 4 † (8%) |
| Functional status | ||||
| Infants < 12 mo | 6 (60%) | 0 | 0 | 6 (12%) |
| Non-sitters | 4 (40%) | 7 (39%) | 1 (5%) | 12 (24%) |
| Sitters | 0 | 11 (61%) | 11 (53%) | 22 (45%) |
| Walkers | 0 | 0 | 9 (43%) | 9 (18%) |
| Highest motor milestone | ||||
| None | 10 (100%) | 0 | 0 | 10 (20%) |
| Sitting | 0 | 18 (100%) | 0 | 18 (37%) |
| Walking | 0 | 0 | 21 (100%) | 21 (43%) |
| Use of non-invasive ventilation (n, %) | 9 (90%) | 10 (56%) | 1 (5%) | 20 (41%) |
| Enteral tube (n, %) | 9 (90%) | 2 (11%) | 0 | 11 (22%) |
| Motor function at 2 years of treatment (n, %) | ||||
| Functional improvement | 8 (80%) | 10 (56%) | 13 (62%) | 31 (63%) |
| No definite functional improvement | 2 (20%) | 8 (44%) | 8 (38%) | 18 (37%) |
m = months, y = years. * Note that SMN2 copy numbers may reflect “greater or equal to” the number shown, as some clinical labs reported “at least 2” or “at least 3” copies. † One patient had 1 SMN2 copy and a compound heterozygous point mutation on the single SMN1 allele.