Table 1a.
Baseline demographic and key clinical features
| Characteristic | Total N=203 | |
|---|---|---|
|
| ||
| Sex | Male | 112 (55.2%) |
| Female | 91 (44.8%) | |
|
| ||
| Race | White | 179 (88.2%) |
| Black | 15 (7.4%) | |
| Asian | 4 (2.0%) | |
| Other | 5 (2.5%) | |
|
| ||
| Ethnicity | Hispanic/Latino | 36 (17.7%) |
| Non-Hispanic/Latino | 167 (82.3%) | |
| Gene with a pathogenic variant | C9orf72 | 20 (9.9%) |
|
|
||
| SOD1 | 3 (1.5%) | |
|
|
||
| TARDBP | 1 (0.5%) | |
|
|
||
| [Unknown] 2 | 179 (88.2%) | |
|
| ||
| Age at onset, years | Mean ± SD (Range) | 57.1 ± 12.0 (15-82) |
|
| ||
| Bulbar symptoms at onset | No | 147 (72.4%) |
|
|
||
| Yes | 56 (27.6%) | |
|
| ||
| Diagnostic delay, months | Median (Q1-Q3) | 8.2 (5.2-13.8) |
|
| ||
| Time from symptom onset to baseline, months | Median (Q1-Q3) | 14.4 (10.5-22.5) |
|
| ||
| Baseline ΔFRS, points/month | Median (Q1-Q3) | 0.60 (0.4-0.9) |
|
| ||
| Baseline age, years | Mean ± SD (Range) | 58.5 ± 12.1 (17-83) |
|
| ||
| Baseline El Escorial category | Clinically definite ALS | 45 (22.2%) |
|
|
||
| Clinically probable ALS | 95 (46.8%) | |
| Other | 63 (31.0%) | |
| Baseline ALSFRS-R total score | Mean ± SD (Range) | 37.9 ± 5.7 (15-48) |
|
| ||
| Baseline SVC, %predicted | Mean ± SD (Range) | 85.3 ± 17.2 (52.0-135.5) |
|
| ||
| Baseline ECAS total score 1 | Mean ± SD (Range) | 110.2 ± 12.4 (44-130) |
|
| ||
| Baseline ECAS ALS-specific score 1 | Mean ± SD (Range) | 81.8 ± 10.3 (35-97) |
|
| ||
| Baseline ECAS ALS non-specific score 1 | Mean ± SD (Range) | 28.4 ± 3.7 (9-35) |
| Baseline cognitive impairment, by ECAS | No | 137 (87.8%) |
| Yes | 19 (12.2%) | |
|
|
||
| [n/a] 3 | 47 (--) | |
|
| ||
| Baseline behavioural impairment, by ECAS | No | 95 (84.8%) |
|
|
||
| Yes | 17 (15.2%) | |
|
|
||
| [n/a] 4 | 91 (--) | |
| Survival duration from baseline, months | Median (Q1-Q3) | 30.1 (17.4-47.7) |
| PAV, tracheostomy, or death occurrence | No | 110 (54.2%) |
|
|
||
| Yes | 93 (45.8%) | |
|
| ||
| Number of sample collections | 2 | 48 (23.6%) |
|
|
||
| 3 | 56 (27.6%) | |
|
|
||
| 4 | 47 (23.2%) | |
| 5 | 52 (25.6%) | |
1
Among English speakers (n=171)
2
No pathogenic variant identified (by C9orf72 testing and whole genome sequencing) in known disease-causing genes.
3
Not available, because a non-English version of ECAS was completed or if there was insufficient information to determine impairment status.
4
Not available, because a non-English version of ECAS was completed, caregiver did not complete ECAS, or if there was insufficient information to determine impairment status.
SD = Standard deviation. Q1 = 1st quartile. Q3 = 3rd quartile.
ECAS = Edinburgh Cognitive and Behavioural ALS Screen.
SVC = Slow vital capacity. PAV = Permanent assisted ventilation.