Table 1.
Baseline demographic and clinical characteristics of all patients treated with gene replacement therapy included in the follow-up analysis (i.e., with more than 12 months of follow-up in June 2022) [n = 29]
| Caracteristics | All patient (N = 29) | 2 copies (N = 22) | 3 copies (N = 7) |
|---|---|---|---|
| Sex ratio M/F | 10/19 | 8/14 | 2/5 |
| SMN type | |||
| 1a | 3 | 3 | 0 |
| 1b | 15 | 15 | 0 |
| 1c | 11 | 4 | 7 |
| Mean age (range)—month | 7.5 (2.1–12.5) | 6.6 (2.1–12.1) | 10.6 (6.5–12.5) |
| Mean height (range)—cm | 67.4 (55–78) | 65.5 (55–75) | 73 (69–78) |
| Mean weight (range)—kg | 7.4 (4.6–9.6) | 7.1 (4.6–9.2) | 8.5 (7.1–9.6) |
| TC/HC (range) | 0.98 (0.88–1.05) | 0.97 ( 0.88–1.05) | 1.00 (0.94–1.04) |
| Mean HINE-2 scale | 4 (0–9) | 3 (0–7) | 7 (4–9) |
| Mean CHOPINTEND scale | 27.3 (9–50) | 24.1 (9–37) | 37.3 (27–50) |
| Patient with clinical support—number | |||
| Gastrostomy | 0 | 0 | 0 |
| NIV | 1 | 1 | 0 |
| Spinal brace | 0 | 0 | 0 |
NIV noninvasive ventilation, SMA spinal muscular atrophy