Table 1.
Study population description. Age at baseline, gender, number of SMN2 copies, response to therapy, respiratory support and nutrition information are listed in the table
| SMA1 (n = 19) | SMA2 (n = 19) | SMA3 (n = 23) | Total (n = 61) | |
|---|---|---|---|---|
| Age at T0 (median, Q1-Q3) | 2.1 (0.7–4.9) | 7.7 (2.3–11.8) | 15.3 (7-29.3) | 6,9 (2.3–13) |
| Gender (F/M) | 11/8 | 12/7 | 12/11 | 30/26 |
| SMN2 copies (n,%) | ||||
| 2 SMN2 | 17 (89%) | 2 (10%) | 3 (13%) | 22 (36%) |
| 3 SMN2 | 2 (10%) | 17 (89%) | 10 (43%) | 29 (48%) |
| > 3 SMN2 | 0 | 0 | 9 (39%) | 9 (15%) |
| Responders (n,%) | 11 (52%) | 6 (31%) | 6 (23%) | 23 (37%) |
| Respiratory support (n,%) | ||||
| Use of non-invasive ventilation | 7 (37%) | 8 (42%) | 1 (4%) | 16 (26%) |
| Tracheostomy | 7 (37%) | 1 (5%) | 0 | 8 (13%) |
| Nutrition (n,%) | ||||
| Oral | 7 (37%) | 19 (100%) | 23 (100%) | 49 (80%) |
| Nasogastric tube | 8 (42%) | 0 | 0 | 8 (13%) |
| Gastrostomy | 4 (21%) | 0 | 0 | 4 (6%) |