Table 2.
Descriptive statistics of the available data
| Screening | Visit 1 | Visit 2 | Visit 3 | Visit 4 | |||
|---|---|---|---|---|---|---|---|
| (Baseline) | (week 12) | (week 24) | (week 52) | ||||
| SMA Type III | |||||||
| qMRI biomarkers | |||||||
| T 2 | n/a | 18 | 18 | 18 | 14 | ||
| 60.93 (15.29) | 60.66 (14.43) | 61.18 (14.29) | 63.33 (15.82) | ||||
| DIXON‐FF | n/a | 18 | 18 | 18 | 14 | ||
| 40.94 (19.27) | 40.59 (19.46) | 41.08 (19.58) | 43.26 (20.65) | ||||
| MP‐FF | n/a | 13 | 17 | 18 | 14 | ||
| 47.12 (18.58) | 39.61 (19.48) | 42.18 (20.41) | 44.83 (21.37) | ||||
| CSA (mm 2 ) | n/a | 18 | 18 | 18 | 14 | ||
| 30794.5 (11680.44) | 30468 (11197.95) | 30431.11 (10813.35) | 29657.43 (11383.75) | ||||
| Functional measures | |||||||
| MFM | n/a | 18 | 18 | 18 | 14 | ||
| 83.68 (7.41) | 83.28 (7.92) | 83.27 (8.18) | 83.7 (9.00) | ||||
| MFM D1 | n/a | 18 | 18 | 18 | 14 | ||
| 63.82 (16.68) | 62.96 (16.62) | 62.68 (17.17) | 63.18 (19.44) | ||||
| MFM D2 | n/a | 18 | 18 | 18 | 14 | ||
| 96.42 (2.25) | 95.99 (3.47) | 96.49 (4.02) | 96.82 (3.24) | ||||
| MFM D3 | n/a | 18 | 18 | 18 | 14 | ||
| 99.21 (1.83) | 99.15 (1.96) | 98.68 (2.2) | 99.32 (1.73) | ||||
| 6MWT | n/a | 18 | 18 | 18 | 14 | ||
| 460.05 (138.12) | 492.43 (200.74) | 486.34 (187.39) | 498.93 (239.03) | ||||
| Molecular biomarkers | |||||||
| SMN1 CN | 18 0 (‐) | n/a | n/a | n/a | n/a | ||
| SMN2 CN | 18 3.8 (0.5) | n/a | n/a | n/a | n/a | ||
| SMN1 expression | 15 ‐ (‐) | n/a | n/a | 15 ‐ (‐) | 10 ‐ (‐) | ||
| SMN2 expression | 15 | n/a | n/a | 15 | 10 | ||
| 0.924 (0.209) | 0.966 (0.284) | 0.966 (0.332) | |||||
| SMND7 expression | 15 | n/a | n/a | 15 | 10 | ||
| 0.805 (0.165) | 0.832 (0.228) | 0.846 (0.288) | |||||
| SMN protein | 16 | n/a | n/a | 17 | 11 | ||
| 3406.21 (1091.8) | 3340.69 (811.4) | 3212.98 (903.22) | |||||
| HV | |||||||
| qMRI biomarkers | |||||||
| T 2 | n/a | 19 | 19 | 19 | 15 | ||
| 36.96 (1.98) | 36.96 (1.68) | 36.76 (1.68) | 37.45 (2.34) | ||||
| DIXON‐FF | n/a | 19 | 19 | 19 | 15 | ||
| 6.68 (2.03) | 6.51 (1.90) | 6.46 (1.91) | 6.6 (1.8) | ||||
| MP‐FF | n/a | 19 | 18 | 19 | 15 | ||
| 5.75 (2.85) | 5.2 (2.41) | 5.2 (2.45) | 5.38 (2.3) | ||||
| CSA (mm2) | n/a | 19 | 19 | 19 | 15 | ||
| 62992.74 (15502.03) | 63639.58 (14711.72) | 62652.68 (14733.72) | 63507.53 (14251.43) | ||||
This table displays sample numbers (N) in upper row, mean and standard deviation (in brackets) in lower row. Some samples and measurements could not be collected due to technical or logistical issues. 6MWT, 6‐min walk test; CSA, muscle cross‐sectional area; CN, copy number; FF, fat fraction; HV, healthy volunteers; MFM, Motor function measure; MP‐FF, multi‐peak FF; qMRI, quantitative magnetic resonance imaging; SMA, spinal muscular atrophy; SMN2FL, SMN2 mRNA expression level; SMNΔ7, SMNΔ7 mRNA expression level.