Table 2.
Clinical data of the patients included in the therapeutic cohort study.
| Patient ID | SMN2 copy number | Age of symptoms onset (months) | Age at first dose (months) | CHOP‐INTEND pre‐treatment | HINE pre‐treatment | CHOP‐INTEND 2 months of treatment | HINE 2 months of treatment | CHOP‐INTEND 6 months of treatment | HINE 6 months of treatment |
|---|---|---|---|---|---|---|---|---|---|
| PN1 | 3 | NBS | 1 | 58 | 3 | 62 | 6 | NA | NA |
| PN2 | 3 | 5 | 32.6 | 37 | 1 | 39 | 6 | 35 | 4 |
| PN3 | 3 | 3 | 10 | 16 | 1 | NA | 2 | 20 | 3 |
| PN4 | 3 | <6 | 396 | 15 | 4 | NA | NA | 25 | 5 |
| PN5 | 2 | 3 | 123 | 9 | 1 | 14 | 1 | 15 | 1 |
| PN6 | 3 | 4 | 16.6 | 25 | 1 | 32 | 2 | 36 | 3 |
| PN7 | 2 | 3 | 19 | 11 | 1 | 22 | 1 | 23 | 1 |
| PN8 | NA | 2 | 4.2 | 35 | 2 | 34 | 2 | 38 | 2 |
| PN9 | 3 | 5 | 52.4 | NA | 5 | NA | 5 | NA | 6 |
| PN10 | 2 | 2 | 28.2 | NA | 6 | NA | 8 | NA | 10 |
| PN11 | 3 | 3 | 19.1 | 32 | 2 | 30 | 2 | 34 | 5 |
| PN12 | 2 | 4 | 15.7 | 27 | 1 | 25 | 1 | 28 | 0 |
| PN13 | 3 | 4 | 41.9 | NA | 6 | NA | 7 | NA | 7 |
| PN14 | 2 | 1 | 3 | 24 | 2 | 35 | 4 | 46 | 5 |
| PN15 | 3 | 5 | 12 | 40 | 2 | 40 | 2 | 51 | 11 |
| PN16 | 3 | Pre‐symtomatic | 5 | 63 | 11 | 64 | 18 | 64 | 24 |
| PN17 | 3 | 3 | 27.7 | 22 | 1 | 22 | 1 | 26 | 1 |
| PN18 | 3 | 5 | 15 | 29 | 2 | 32 | 3 | 43 | NA |
| PN19 | NA | 0.5 | 155 | NA | NA | NA | NA | NA | NA |
| PN20 | 2 | 5 | 5.8 | 31 | 2 | 39 | 3 | 49 | 5 |
| PN21 | 2 | 6 | 420 | NA | NA | NA | NA | NA | 9 |
| PN22 | 2 | 2 | 30.3 | 35 | 4 | 40 | 7 | 41 | 8 |
Presented are the age of onset, age at the first dose and motor milestone scores according to CHOP‐INTEND and HINE assessments at baseline, 2 and 6 months of treatment. CHOP‐INTEND, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; HINE, Hammersmith Infant Neurological Examination Section 2; NA, not available; NBS, newborn screening; SMN, survival motor neuron.