Table 7. Molecular SMA biomarkers.
| SMA type 2 | SMA type 3 | Overall | |||
|---|---|---|---|---|---|
| Non-Sitter | Sitter | Non-Ambulant | Ambulant | ||
| SMN1 mRNA level 1, 2 (fold changes) | n = 0 | n = 1 | n = 0 | n = 1 | n = 2 |
| 0 (-) | 0.11 (-) | 0 (-) | 0.30 (-) | 0.20 (0.08–0.22) | |
| SMN2 mRNA level 1, 3 (fold changes) | n = 14 | n = 26 | n = 7 | n = 13 | n = 60 |
| 0.76 (0.37–1.06) | 1.16 (0.51–1.26) | 0.62 (0.28–1.30) | 1.06 (0.54–1.15) | 0.96 (0.45–1.20) | |
| SMND7 mRNA level 1, 3 (fold changes) | n = 14 | n = 26 | n = 7 | n = 13 | n = 60 |
| 0.67 (0.37–0.75) | 0.79 (0.41–0.88) | 0.49 (0.40–0.80) | 0.72 (0.43–0.78) | 0.69 (0.41–0.81) | |
| SMN protein level 1, 4 (pg/mL) | n = 18 | n = 33 | n = 9 | n = 18 | n = 78 |
| 2832 (2452–3743) | 3122 (2883–3810) | 3316 (2445–3852) | 3597 (2930–4292) | 3187 (2715–3858) | |
Values are median (IQR)
1 Baseline samples could not be collected for one non-sitter SMA type 2 patient due to lack of patient compliance during the procedure (2 years old patient)
2 SMN1 mRNA level have been only detected in the two patients with 1 SMN1 copy (Table 1)
3 Baseline RNA results of 20 patients were excluded after quality control (missing results for SMN2, SMND7 or RG PCR for some samples or results out of assay specifications). Values are reported as described in [7]
4 Two baseline SMN protein samples could not be collected for two patients due to lack of collected blood (one sitter SMA type 2 and one ambulant SMA type 3).