Table 3.

Key Findings from Real-World Studies in Mixed Groups and in Older Patients

Reference	Period, Cohort, Country	Main Findings
Osredkar et al113	14-month follow-up of 61 patients in Slovenia and Czech Republic SMA type 1 (N=16), type 2 (N=13), type 3 (N=13)	Change in scores on different motor scales presented as percentage scores 72.9% improved during the study period, 11.9% were stable, and 13.5% deteriorated Younger patients benefited more and quicker compared to older ones
Wataya et al114	2-year follow-up of 271 patients in Japan SMA type 1 (35%), type 2 (42%), type 3 (23%), type 4 (0.4%) 87% were > 2 years at baseline; 31% were > 16 years.	26.2% of participants demonstrated improvements on HINE 33.3% of the walkers improved by at least 30 meters on 6MWT
Pera et al52	International SMA registry data, mean follow-up of 1.83 years 144 pediatric and adult patients with SMA type 3, aged 30 months – 68.27 years	At 12-months, HFMSE change was +1.18 points (N=104, P=0.004), significant in both sitters and walkers Compared to external untreated cohort, in patients > 7 years of age, ∆ is always 2.5–3 points RULM change significant in sitters only 6MWT change at 12 months not statistically significant
Lefeuvre et al115	18 adult patients; SMA type 1 (N=7), type 2 (N=9), and type 3 (N=2) Single French center Mean age at baseline 28.0 years; advanced disease in all	Mean MFM-32 score for the whole group was 15.6%; 10/18 had scores below, and 8/18 had scores equal to or higher than the mean Scores did not increase significantly between days 0 and 303
Tscherter et al116	6–42-month follow-up of 44 patients in Switzerland, aged 0.1–44.6 years old SMA type 1, 2, and 3	Positive treatment effect on motor function, with either improvement or stabilization, demonstrated in all groups and all forms of severity; most striking in patients with SMA type 1 who initiated treatment < 18 months
Pane et al117	24-month data from 111 Italian patients with SMA type 2 (N=46) and type 3 (N=65) Median age at baseline 6.66 and 17.86 years, respectively	Significant HFMSE change between baseline and 24 months in SMA type 2 (+ 1.6 points, P=0.019) and type 3 (+ 1.5 points, P=0.017) RULM points had significantly increased at 24 months in type 2 (P=0.018) but never in type 3, possibly due to a ceiling effect In general, smallest changes observed at the severe end of the disease-spectrum, in both SMA type 2 and type 3; conversely, the positive difference is mostly driven by the younger cohort