Table 1.
Demographics and clinical characteristics of patients with SMA types 1–4
| Patient characteristics | SMA type 1 (n = 1) |
SMA type 2 (n = 18) |
SMA type 3 (n = 47) |
SMA type 4 (n = 20) |
|---|---|---|---|---|
| Demographic characteristics a | ||||
| Age at index date,b years | ||||
| Mean ± SD | 1.0 ± NA | 7.9 ± 5.7 | 17.3 ± 10.2 | 38.2 ± 11.6 |
| Median (IQR) | 1.0 (1.0, 1.0) | 5.5 (4.0, 10.0) | 17.0 (10.0, 21.0) | 37.0 (28.0, 48.0) |
| Sex, n (%) | ||||
| Female | 0 (0.0%) | 11 (61.1%) | 26 (55.3%) | 11 (55.0%) |
| US Census region, n (%) | ||||
| South | 1 (100.0%) | 4 (22.2%) | 17 (36.2%) | 13 (65.0%) |
| Midwest | 0 (0.0%) | 11 (61.1%) | 13 (27.7%) | 3 (15.0%) |
| West | 0 (0.0%) | 2 (11.1%) | 10 (21.3%) | 1 (5.0%) |
| Northeast | 0 (0.0%) | 1 (5.6%) | 7 (14.9%) | 3 (15.0%) |
| Clinical characteristics c | ||||
| SMA-related comorbidities, n (%) | 1 (100.0%) | 16 (88.9%) | 42 (89.4%) | 12 (60.0%) |
| Scoliosis | 1 (100.0%) | 13 (72.2%) | 33 (70.2%) | 0 (0.0%) |
| Dyspnea and respiratory anomalies | 1 (100.0%) | 8 (44.4%) | 21 (44.7%) | 1 (5.0%) |
| Muscle weakness (generalized) | 0 (0.0%) | 12 (66.7%) | 12 (25.5%) | 5 (25.0%) |
| Chronic respiratory failure | 1 (100.0%) | 8 (44.4%) | 15 (31.9%) | 1 (5.0%) |
| Feeding difficulties and mismanagement | 0 (0.0%) | 8 (44.4%) | 9 (19.1%) | 1 (5.0%) |
| Other comorbidities, n (%) | 1 (100.0%) | 9 (50.0%) | 17 (36.2%) | 9 (45.0%) |
| Neurodevelopmental disorders | 1 (100.0%) | 7 (38.9%) | 7 (14.9%) | 1 (5.0%) |
| Elimination disordersd | 0 (0.0%) | 2 (11.1%) | 7 (14.9%) | 1 (5.0%) |
| Anxiety disorders | 0 (0.0%) | 0 (0.0%) | 4 (8.5%) | 5 (25.0%) |
| Depressive disorders | 0 (0.0%) | 0 (0.0%) | 3 (6.4%) | 5 (25.0%) |
| Other conditions that may be a focus of clinical attention | 0 (0.0%) | 2 (11.1%) | 2 (4.3%) | 3 (15.0%) |
IQR, interquartile range; NA, not applicable; SD, standard deviation; SMA, spinal muscular atrophy; US, United States
aDemographic characteristics were summarized as of the index date
bThe index date was defined as the date of risdiplam initiation on or after August 7, 2020 (i.e., the date when risdiplam was approved for the treatment of SMA in pediatric and adult patients in the United States)
cClinical characteristics were summarized during the study period defined as the time from the index date to the end of continuous enrollment, the end of data availability (i.e., June 30, 2022), or the end of 1-year follow-up, whichever occurred first
dElimination disorders involve the inappropriate elimination of urine or feces and are first diagnosed in childhood or adolescence