Table 4.

Real-World Data on Key Motor Function Results in SMA Type 1 Following Treatment with Nusinersen

		N; Age	Motor Scale Used; Pretreatment Score	Change During Study Period	P
Szabó et al55	R	7; mean 0.78 ± 0.27 years	CI; mean 30.0 points (SD 7.6)	Average +14.9 points (± 5.1), at day 307	0.016
				All had improved by > 4 points
				Average +20 points, at day 429 (N=6)	0.031
		SMN2 copy number not specified.
Audic et al50	R	30; <2 years	H; mean 7 points (range 0–23) at T0	Mean +14.5 (range 7–25) at T1 (1 year). Statistically significant, but only 20 patients, not specified which	<0.001
		21 with SMA type 1, 9 with SMA type 2. 5 patients with SMA type 1 died during the study period.
Pechmann et al56	P	61; mean 21.08 months (range 1–93)	CI; mean 22.3 points (range 1–50)	Mean +9.0 points (± 8.0), after 6 months of treatment	NS
		38 with 2 SMN2 copies, 20 with 3 SMN2 copies. Greater change in children aged ≤ 7 months, compared to > 7 months. Less changes in children already on permanent ventilator support. Gain of ≥ 4 points in 77%. 3 patients received a tracheostomy during the study period. 1 patient died. Of note, parents reported positive effects even in children who deteriorated in CI points; “parents´ high expectations … ”.
Pane et al57	P	85; mean 4.70 years (range 2 months – 15:11 years)	CI; mean 15.66 points (± 13.48)	Mean +5.48 (± 7.62), range −6 to +32, at 12 months	<0.001
			H; mean 0.69 points (± 1.23)	Mean +1.34 (± 2.90), range −3 to +12, at 12 months	<0.001
		2 with 1 SMN2 copy, 61 with 2 SMN2 copies, 18 had 3 copies, 4 were unknown. 12 deteriorated on CI, 38 gained ≥ 4 points. 4 deteriorated on H, 28 improved, and 1 achieved standing. 11 patients discontinued nusinersen treatment after 1 year, because of lack of effect or side-effects.
Aragon-Gawinska et al58	P	33; 8.3–113.1 months	CI; median 31.5 points (range 6–45), N=20	+4 (range −2 to +14), after 6 months	=0.001
			H; median 1 point (range 0–6), N=33.	+1.5 (range −1 to +9), after 6 months	=0.001
		30 (=90%) younger than 53 months. 15 with 2 SMN2 copies, 17 with 3 copies. 8 patients deteriorated with regards to respiratory function during the study period.
Olsson et al102	P	12; mean 14.4 ± 24.0 months. 2 SMN2 copies.	CI; mean 24.3 ± 8.2 points	Median +13 (range 3–30) points, after a mean study period of 11 months	<0.0001
Chan et al118	R	40; median 20 months (range 0.35–294).	CI; median 12.0 points (range 0.0–60.0), N= 23	+8.5 points (range 0.0–49.0), after 10 months	<0.001
			H; median 0 points (range 0.0–4.0), N=37	+3.0 points (range 0.0–20.0)	<0.001
		25 had 2 SMN2 copies, 14 had 3 copies and 1 had 1 copy. Best effect in patients who started treatment < 2 years of age.
Pane et al119	P	68; mean 3.96 years (SD 3.90, range 0.20–15.92)	CI; mean 18.09 ± 14.22 points	Mean +6.72 ± 8.33 points at 12 months, and +8.66 ± 9.35 points at 24 months	<0.001
			H; mean 0.88 ± 1.33 points	Mean +1.87 ± 3.18 points at 12 months, and +2.62 ± 4.39 points at 24 months	<0.001
		2 with 1 SMN2 copy, 48 with 2 copies, 17 with 3 copies, and 1 with 4 copies. CI difference between baseline and 2 years significant I all age groups. 16 could sit at 12 months, and further 6 at 24 months.
Tscherter et al116	P	11; mean 1.4 years (range 0.1–16.1)	CI; median 25 points (range 2–29)	Median +25 points (range 2–42), median treatment duration 2.1 years.	NS
		5 with 2 SMN2 copies, 4 with 3 copies, 2 unknowns. Largest improvements in patients <18 months at treatment initiation (N=6). 3 display delayed language development and 3 difficulties with articulation.
Osredkar et al113	P	16; median 5.2 years (range 0.2–14.7)	Percentage score of 17.0% ± 5.1% at baseline	Had increased to 27.5% ± 4.7% at 14 months	=0.002
		1 patient died during the study period, and 1 scored lower at 14 months. 5 patients could sit independently at last visit. Significant risk for need for NIV and gastric tube even in patients who improve on motor scales.

Abbreviations: R, retrospective; P, prospective; N, number of participants; NS, not specified; CI, CHOP INTEND; H, HINE-2; SD, standard deviation.