Table 1.
Overview of baseline (at the time of the switch from nusinersen to risdiplam) demographic and clinical parameters of all patients, including sub-groups according to SMA types.
| Baseline Demographics | SMA 1 | SMA 3p | SMA 3a | SMA 3 Total | Total | ||||
|---|---|---|---|---|---|---|---|---|---|
| N (% out of total) | 6 (35.3%) | 4 (23.5%) | 7 (41.2%) | 11 (64.7%) |
17 (100%) |
||||
| Age (years) | X ± SD | 8.0 ± 3.6 | 11.4 ± 4.3 | 34.5 ± 8.1 | 26.1 ± 13.4 | 19.7 ± 14.0 | |||
| Med (Min–Max) | 8.0 (3.0–12.75) | 10.1 (7.75–17.5) | 35.0 (21.25–44.5) | 28.5 (7.75–44.5) | 12.75 (3.0–44.5) | ||||
| Male/female | 3/3 | 0/4 | 4/3 | 4/7 | 7/10 | ||||
| SMN1 exon 7 copy number | 0 | 6 | 4 | 7 | 11 | 17 | |||
| 1 | 0 | 0 | 0 | 0 | 0 | ||||
| SMN1 exon 8 copy number | 0 | 6 | 3 | 4 | 7 | 13 | |||
| 1 | 0 | 1 | 2 | 3 | 3 | ||||
| 2 | 0 | 0 | 1 | 1 | 1 | ||||
| SMN2 exon 7 copy number | 1 | 0 | 0 | 0 | 0 | 0 | |||
| 2 | 5 | 1 | 0 | 1 | 6 | ||||
| 3 | 1 | 3 | 4 | 7 | 8 | ||||
| 4 | 0 | 0 | 3 | 3 | 3 | ||||
| SMN2 exon 8 copy number | 1 | 0 | 0 | 0 | 0 | 0 | |||
| 2 | 5 | 0 | 2 | 2 | 7 | ||||
| 3 | 1 | 3 | 4 | 7 | 8 | ||||
| 4 | 0 | 1 | 1 | 2 | 2 | ||||
| NAIP copy number | 0 | 4 | 1 | 0 | 1 | 5 | |||
| 1 | 1 | 0 | 2 | 2 | 3 | ||||
| 2 | 1 | 3 | 4 | 7 | 8 | ||||
| 3 | 0 | 0 | 1 | 1 | 1 | ||||
|
Mechanical ventilation—N (% out of total for corresponding SMA type) |
3 (50.0%) | 0 (0%) | 0 (0%) | 0 (0%) | 3 (17.6%) | ||||
| BiPAP—N (% out of total for corresponding SMA type) | 3 (50.0%) | 0 (0%) | 0 (0%) | 0 (0%) | 3 (17.6%) | ||||
| PEG—N (% out of total for corresponding SMA type) | 2 (33.3%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (11.8%) | ||||
| NG tube—N (% out of total for corresponding SMA type) | 2 (33.3%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (11.8%) | ||||
| Baseline motor function (N of patients) | X ± SD | CHOP INTEND | 33.7 ± 23.7 | HFMSE | 54.8 ± 10.2 | RHS | 39.1 ± 12.7 | N/A | N/A |
| Med (Min–Max) | 31.5 (9–58) | 58.5 (40–62) | 37 (19–57) | ||||||
Note: SMA—spinal muscular atrophy; a—adult; p—paediatric; MV—mechanical ventilation; BiPAP—bi-level positive airway pressure; PEG—percutaneous endoscopic gastrostomy; NG—nasogastric; CHOP INTEND—Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; HFMSE—Hammersmith Functional Motor Scales Expanded; RHS—Revised Hammersmith Scale.