A Systematic Literature Review on Costs and Healthcare Resource Utilization in Spinal Muscular Atrophy
Author(s)
Salman Hussain, PhD1, Michel Kroes, MSc2, Grace McCarthy, MSc3, Laurent Servais, PhD4.
1Novartis Healthcare Private Limited, Hyderabad, Telangana, India, 2Novartis Pharma AG, Basel, Switzerland, 3Novartis Ireland Limited, Dublin, Ireland, 4MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, United Kingdom.
1Novartis Healthcare Private Limited, Hyderabad, Telangana, India, 2Novartis Pharma AG, Basel, Switzerland, 3Novartis Ireland Limited, Dublin, Ireland, 4MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, United Kingdom.
OBJECTIVES: The objective of this systematic literature review (SLR) was to assess the costs and healthcare resource utilisation (HCRU) associated with spinal muscular atrophy (SMA).
METHODS: Literature searches were conducted in Medline, Embase, EBM HTA, and NHS-EED databases from 2014 to February 2025. The search date restriction was set to capture time before first SMA drug approval. Handsearching was conducted for conferences, HTA websites, and bibliographies. The SLR was conducted for broader economic burden of SMA including patients identified pre- and post-symptoms; here we summarise costs and HCRU findings.
RESULTS: Of 1,066 records reviewed, 72 studies were included: 41 studies reported both costs and HCRU, 19 studies reported costs, and 12 studies reported HCRU. Majority of studies were conducted in Europe (n=30), followed by the Americas (n=26), Asia-pacific (n=10), Middle East (n=3), and multiple regions (n=3). Mean per-patient per-year (PPPY) total costs of SMA varied from €32,042 to €206,856 across Europe. Mean PPPY direct medical costs of SMA varied from €4,672 to €166,242 across Europe, and US$47,862 in US. Pre-symptomatic treatment resulted in lower direct costs compared to no or symptomatic treatment, excluding drug cost. Patients with type 1 SMA incurred highest total costs and direct medical costs PPPY compared to type 2 and type 3 SMA. Mean PPPY direct non-medical costs of SMA varied from €22,839 to €44,670 and indirect costs varied from €6,856 to €15,845 across Europe. Carer costs were the major direct non-medical cost driver, while productivity loss was the major indirect cost driver. Across Europe, caregivers spent an average of 7.8 to 12.5 hours/day in caregiving. Non-adherence to risdiplam and nusinersen was found to be associated with increased PPPY total cost and HCRU.
CONCLUSIONS: Global SMA burden is substantial, with high costs of patient care and large impact on caregiver time. Early identification and treatment may reduce costs and HCRU.
METHODS: Literature searches were conducted in Medline, Embase, EBM HTA, and NHS-EED databases from 2014 to February 2025. The search date restriction was set to capture time before first SMA drug approval. Handsearching was conducted for conferences, HTA websites, and bibliographies. The SLR was conducted for broader economic burden of SMA including patients identified pre- and post-symptoms; here we summarise costs and HCRU findings.
RESULTS: Of 1,066 records reviewed, 72 studies were included: 41 studies reported both costs and HCRU, 19 studies reported costs, and 12 studies reported HCRU. Majority of studies were conducted in Europe (n=30), followed by the Americas (n=26), Asia-pacific (n=10), Middle East (n=3), and multiple regions (n=3). Mean per-patient per-year (PPPY) total costs of SMA varied from €32,042 to €206,856 across Europe. Mean PPPY direct medical costs of SMA varied from €4,672 to €166,242 across Europe, and US$47,862 in US. Pre-symptomatic treatment resulted in lower direct costs compared to no or symptomatic treatment, excluding drug cost. Patients with type 1 SMA incurred highest total costs and direct medical costs PPPY compared to type 2 and type 3 SMA. Mean PPPY direct non-medical costs of SMA varied from €22,839 to €44,670 and indirect costs varied from €6,856 to €15,845 across Europe. Carer costs were the major direct non-medical cost driver, while productivity loss was the major indirect cost driver. Across Europe, caregivers spent an average of 7.8 to 12.5 hours/day in caregiving. Non-adherence to risdiplam and nusinersen was found to be associated with increased PPPY total cost and HCRU.
CONCLUSIONS: Global SMA burden is substantial, with high costs of patient care and large impact on caregiver time. Early identification and treatment may reduce costs and HCRU.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EE34
Topic
Economic Evaluation, Study Approaches
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
Genetic, Regenerative & Curative Therapies, Neurological Disorders, Rare & Orphan Diseases