Resources

NBS

Belgium:

• Belgium Year 1 (Boemer et al, Neuromuscul Dis, 2019)
• Belgium Year 3 (Boemer et al, Sci report, 2021)

Taiwan:

• Taiwan (Chien et al, J Pediatr, 2017)

USA:

• New-York (Kraszewski et al, Genet Med, 2018)
• New-York - incidence (Kay et al, Genet Med, 2020)
• North-Carolina (Kucera et al, Int J Neonatal Screen, 2021)
• Massachusetts (Hale et al, Int J Neonatal Screen, 2021)
• US (Hale, Int J Neonatal Screen, 2021)
• New-York 3 years (Hoon Lee, Neurology, 2022)
• Wisconsin, 1 year (Baker et al, Neuromuscul Dis, 2022)

Germany:

• Germany Year 1 (Vill et al, J Neuromuscul Dis, 2019)
• Germany Year 2 (Vill et al, Orphanet J Rare Dis, 2021)

Australia:

• Australia Year 1 (Kariyawasam et al, Genetics in Med, 2019 )
• Australia Year 3 (D'Silva et al, Dev Med Child Neuro, 2021)
• Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective (Balaji, Expert Rev Neurother, 2023)
• Australia : Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study (Kariyawasam et al, Lancet Child & adolescent health, 2023)

Japan:

• Japan (Shinohara et al, Int J Neonatal Screen, 2019)
• Osaka prefecture (Kimizu, Int J Neonatal Screen, 2021)
• Newborn screening for spinal muscular atrophy in Japan: One year of experience (Sawada, Mol Genet Metab Rep. 2022)

Canada:

• Ontario (McMillan et al, Can J Neurol Sci, 2021)

Europe:

• ENMC (Dangouloff et al, Neuromuscul Dis, 2020)

Monde:

• (Dangouloff et al, Orphanet J Rare Dis, 2021)

Medico-economic analysis

• Review (Dangouloff et al, Orphanet J Rar Dis, 2021)

• Cost-effectiveness of Nusinersen and universal newborn screening for spinal muscular atrophy. (Jalali et al, J Pediatr, 2020)

• Spinraza® and Zolgensma® for Spinal Muscular Atrophy: Effectiveness and Value (Institute for Clinical and Economic Review; 2019)

• Cost-effectiveness of Nusinersen (Spinraza) for the treatment of 5q spinal muscular atrophy (SMA). (National Center for Pharmacoeconomics; 2017)

• Special edition of Pharmaco-Economics : Assessing the Value of Treatments for Spinal Muscular Atrophy (2022)

  • Editorial : Dramatic Innovations in the Treatment of Spinal Muscular Atrophy, But Many Unknowns Remain (Skedgel)

  • Importance of Patient Involvement in the Value Assessment Process: On the Way Towards Personalised Treatments (Nicole Gusset)

  • Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management (Paracha)

  • Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers (Sutherland) 

  • Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA) (Paracha)

  • Preferences and Utilities for Treatment Attributes in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy in the United Kingdom (Hing Lo)

  • Patient and Caregiver Treatment Preferences in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy: A Discrete Choice Experiment Survey in Five European Countries (Hing Lo)

• Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening (Dangouloff et al, DMCN, 2022)
• A 5 min video illustrating the article of DMCN on costs and quality of life in the SMA

• Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands (Velikanova et al, Value Health, 2022)

• Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency (Shih, Int J Neonatal Screen, 2022)

• Newborn screening for spinal muscular atrophy with desase-modifying therapies: a cost-effectiveness analysis (Shih, BMJ, 2022)

• Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium (Dangouloff, NMD, 2023)