Table 2 SMA symptoms at diagnosis of treated patients
From: 10th European Conference on Rare Diseases & Orphan Products (ECRD 2020)
| Â | Treatment received | |||||
|---|---|---|---|---|---|---|
Symptom, n (%) | Onasemnogene abeparvovec → nusinersen (n = 2) | Nusinersen → onasemnogene abeparvovec (n = 17) | Nusinersen → onasemnogene abeparvovec → nusinersen (n = 8) | Onasemnogene abeparvovec only (n = 18) | Nusinersen only (n = 11) | All treated patients (N = 56) |
Patients with symptoms, n | 2 | 16 | 8 | 15 | 10 | 51 |
Hypotonia | 1 (50.0) | 12 (75.0) | 8 (100.0) | 13 (86.7) | 7 (70.0) | 41 (80.4) |
Limb weakness | 2 (100.0) | 13 (81.3) | 7 (87.5) | 11 (73.3) | 9 (90.0) | 42 (82.4) |
Pneumonia or respiratory symptoms | 2 (100.0) | 10 (62.5) | 5 (62.5) | 5 (33.3) | 1 (10.0) | 23 (45.1) |
Tongue fasciculations | 0 | 10 (62.5) | 3 (37.5) | 6 (40.0) | 0 | 19 (37.3) |
Developmental delay | 1 (50.0) | 8 (50.0) | 5 (62.5) | 8 (53.3) | 5 (50.0) | 27 (52.9) |
Constipation | 1 (50.0) | 5 (31.3) | 4 (50.0) | 2 (13.3) | 4 (40.0) | 16 (31.4) |
Swallowing or feeding difficulties | 1 (50.0) | 12 (75.0) | 7 (87.5) | 8 (53.3) | 1 (10.0) | 29 (56.9) |
Other | 0 | 0 | 0 | 0 | 2 (20.0) | 2 (3.9) |