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Table 1 Model Inputs

From: 10th European Conference on Rare Diseases & Orphan Products (ECRD 2020)

InputaValueSource
SMA birth prevalence9.4/100,000Lally et al., 2017 [6]
SMN1 deletion/SMN1 point mutation95.00%/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/III58.00%/29.00%/13.00%Lally et al., 2017 [6]
SMA NBS cost per newborn$10Assumption
Reflex screening (per newborn with SMA-positive results from initial screening)$20Assumption
Onasemnogene abeparvovec drug cost$2,125,000Red book 2019 [11]
Onasemnogene abeparvovec symptomatic administrationb$141CMS physician fee schedule 2018 [12]; Red book 2018 [13]
Onasemnogene abeparvovec pre-symptomatic administrationb$125CMS physician fee schedule 2018 [12]; Red book 2018 [13]
  1. 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
  2. aCosts are reported in 2019 USD. bAdministration costs include intravenous infusion, anti-AAV9 diagnosis test (symptomatic treatment only), laboratory monitoring and prednisolone