Table 1.
Demographics and clinical data for patients with ALS, stratified into D50-derived disease aggressiveness groups (n = 526)
| Disease aggressiveness | p value | |||
|---|---|---|---|---|
| High N = 175 | Intermediate N = 215 | Low N = 136 | ||
| Clinical characteristics | ||||
| No. of females | 77 (44%) | 105 (49%) | 73 (54%) | 0.2a |
| Age at symptom onset, median years (IQR) | 69 (59, 74) | 65 (56, 72) | 62 (51, 70) | < 0.001b* |
| Time from symptom onset to first ALSFRS-R, median months (IQR) | 8 (7, 11) | 14 (11, 19) | 38 (22, 75) | < 0.001b* |
| First ALSFRS-R score, median (IQR) | 36 (30, 41) | 40 (36, 43) | 38 (29, 43) | < 0.001b* |
| Site of symptom onset, N | 0.087a | |||
| Bulbar | 62 (35%) | 80 (37%) | 31 (23%) | |
| Spinal | 94 (54%) | 115 (53%) | 93 (68%) | |
| Other | 11 (6%) | 12 (6%) | 8 (6%) | |
| Unknown | 8 (5%) | 8 (4%) | 4 (3%) | |
| Genetics, N | ||||
| C9orf72 | 22 (13%) | 18 (8%) | 9 (7%) | |
| SOD1 | 1 (0.6%) | 2 (1%) | 11 (8%) | |
| Negative screening panel | 90 (51%) | 140 (65%) | 87 (64%) | |
| Not screened | 62 (35%) | 55 (26%) | 29 (21%) | |
| Disease progression ratec, median (IQR) | 1.43 (0.98, 2.03) | 0.60 (0.40, 0.89) | 0.37 (0.18, 0.65) | < 0.001b* |
| Disease progression ratec group, N | < 0.001a* | |||
| Fast | 84 (48%) | 9 (4.2%) | 9 (6.6%) | |
| Medium | 85 (49%) | 146 (68%) | 43 (32%) | |
| Slow | 6 (3.4%) | 60 (28%) | 84 (62%) | |
| NfL, cTnT and D50 metrics | ||||
| D50 at baseline, median months (IQR) | 14 (11, 18) | 27 (23, 32) | 63 (49, 98) | < 0.001b* |
| rD50 at baseline ALSFRS-R, median (IQR) | 0.34 (0.26, 0.43) | 0.27 (0.19, 0.36) | 0.28 (0.17, 0.46) | < 0.001b* |
| Disease phase, N | < 0.001a* | |||
| I | 40 (23%) | 95 (44%) | 62 (46%) | |
| II | 110 (63%) | 105 (49%) | 47 (35%) | |
| III/IV | 25 (14%) | 15 (7%) | 27 (20%) | |
| CSF NfL and cTnT sample status, N | ||||
| Matched NfL and cTnT | 117 (67%) | 141 (66%) | 73 (54%) | |
| NfL only | 37 (21%) | 50 (23%) | 27 (20%) | |
| cTnT only | 21 (12%) | 24 (11%) | 36 (26%) | |
| CSF NfL, median pg/ml (IQR), N = 445 | 9 590 (6 140, 16 000) | 6 020 (3 860, 8 630) | 3 375 (2 265, 6 055) | < 0.001b* |
| Time from onset to NfL, median months (IQR) | 7 (5, 11) | 12 (8, 17) | 25 (14, 43) | < 0.001b* |
| Plasma cTnT, median pg/ml (IQR), N = 412 | 16 (10, 26) | 17 (9, 26) | 18 (10, 36) | 0.094b |
| Time from onset to cTnT, median months (IQR) | 7 (5, 10) | 13 (9, 19) | 38 (19, 81) | < 0.001b* |
aPearson’s Chi-squared test
bKruskal-Wallis rank sum test
cALSFRS-R derived disease progression rate (DPR)
*Significance p < 0.05