Table 1 Model Inputs

SMA birth prevalence

9.4/100,000

Lally et al., 2017 [6]

SMN1 deletion/SMN1 point mutation

95.00%/5.00%

Kraszewski et al., 2018 [7]; Chien et al., 2017 [8]

SMN2 copies and conditional SMA type distribution

SMN2 – 2 copies (SMA Type I/II/III)

45.00% 78.88%/16.48%/4.64%

Vill et al., 2019 [9]; Calucho et al., 2018 [10]

SMN2 – 3 copies (SMA Type I/II/III)

19.00% (14.74%/54.27%/30.99%)

Vill et al., 2019 [9]; Calucho et al., 2018 [10]

SMN2 - 4 copies (SMA Type I/II/III)

36.00% (0.58%/11.41%/88.01%)

Vill et al., 2019 [9]; Calucho et al., 2018 [10]

SMA type distribution - undetected SMA or SMN1 point mutation

Type I/II/III

58.00%/29.00%/13.00%

Lally et al., 2017 [6]

SMA NBS cost per newborn

$10

Assumption

Reflex screening (per newborn with SMA-positive results from initial screening)

$20

Assumption

Onasemnogene abeparvovec drug cost

$2,125,000

Red book 2019 [11]

Onasemnogene abeparvovec symptomatic administration^b

$141

CMS physician fee schedule 2018 [12]; Red book 2018 [13]

Onasemnogene abeparvovec pre-symptomatic administration^b

$125

CMS physician fee schedule 2018 [12]; Red book 2018 [13]