Table 1.
Model Inputs
| Inputa | Value | Source |
|---|---|---|
| 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 administrationb | $141 | CMS physician fee schedule 2018 [12]; Red book 2018 [13] |
| Onasemnogene abeparvovec pre-symptomatic administrationb | $125 | CMS physician fee schedule 2018 [12]; Red book 2018 [13] |
AAV9 adeno-associated virus serotype 9, CMS Centers for Medicare & Medicaid Services, NBS newborn screening, SMA Spinal Muscular Atrophy, SMN survival motor neuron, USD United States dollar
aCosts are reported in 2019 USD. bAdministration costs include intravenous infusion, anti-AAV9 diagnosis test (symptomatic treatment only), laboratory monitoring and prednisolone