Clinical and Economic Burden of Spinal Muscular Atrophy in France


Beziz D1, Guye S2, Marchal C3, Belhassen M3, Née M3, de Pouvourville G4, Servais L5, Vuillerot C6
1Roche France S.A.S, Levallois-Perret, France, 2F. Hoffmann-La Roche Ltd, Basel, Switzerland, 3PELyon, PharmacoEpidemiology Lyon, Lyon, France, 4108 Bd Richard Lenoir, Paris, France, 5MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK, 6Service de Rééducation Pédiatrique Infantile “L’Escale”, Hôpital Femme Mère Enfant, CHU-Lyon, Bron, France


To assess health care resource use (HCRU) and associated costs of patients with spinal muscular atrophy (SMA), a rare genetic disease characterized by weakness and progressive muscular atrophy caused by motor neuron degeneration, in France.


A retrospective cohort study using data from the national French health insurance database (SNDS) was conducted. All patients with SMA recorded between 2014 and 2018 were included and classified according to SMA type (Type 1 [SMA1] or Types 2–4 [SMA2+]) using algorithms. HCRU and associated costs were described per month, by SMA type and by age. End-of-life costs were described in the three and six months before death in patients with SMA1 and SMA2+, respectively.


We identified 934 patients with SMA, 307 (32.9%) classified as SMA1 (median age: 8 months; 54.1% male) and 627 (67.1%) classified as SMA2+ (median age: 17 years; 56.6% male). Most patients (96.5%) experienced at least one hospitalization. The overall mean number of medical contacts was 8 per month, of which ~60% were visits to physiotherapists. Average monthly costs from a collective perspective were €11,854 and €5,344 per month for patients with SMA1 and SMA2+, respectively, with 63.8% and 71.4% related to nusinersen injection costs, respectively. The remaining costs (€4,297 [SMA1] and €1,530 [SMA2+]) were mainly driven by hospitalizations and medical devices costs. These costs were lower in older patients with SMA1, whereas they were stable across age groups in patients with SMA2+. End-of-life costs (excluding nusinersen) were high in both subgroups (€6,753 and €4,661 per month, respectively).


This study highlights the high clinical and economic burden of SMA. The costs are higher in patients with Type 1 SMA (compared with patients with Types 2–4 SMA), especially in younger patients, and in the last months before death. Nusinersen injection represented the most expensive health expenditure, followed by hospitalization costs.

Conference/Value in Health Info

2021-11, ISPOR Europe 2021, Copenhagen, Denmark

Value in Health, Volume 24, Issue 12, S2 (December 2021)




Economic Evaluation, Patient-Centered Research, Real World Data & Information Systems

Topic Subcategory

Health & Insurance Records Systems, Patient-reported Outcomes & Quality of Life Outcomes


Musculoskeletal Disorders, Neurological Disorders, Pediatrics, Rare and Orphan Diseases

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