Spinal muscular atrophy is the second most common neuromuscular disease in children. There are four types (from I to IV) depending on the age of onset of symptoms and the maximum functional motor abilities reached. Nusinersen (Spinraza®) was the first innovative treatment for SMA to be marketed in Europe and the United States. This product, based on antisense oligonucleotides, aims to increase the production of SMN protein. The treatment is as its strongest as it intervenes very early, this constituting a major argument for setting up screening for this pathology at birth (NBS for newborn screening).
In an article published in July 2020, US researchers compared the cost-effectiveness of three treatment options in SMA: nusinersen alone, nuninersen as part of newborn screening and standard care without innovative therapy or screening. The combination of screening at birth and early treatment with nusinersen is most relevant. The ICER index (the incremental cost-effectiveness ratio) in this scenario is US $ 300,558 per year of life saved (i.e. uncomplicated). In their optimal model, from the payers’ point of view, the researchers estimate that the unit dose of nusinersen should be recalculated significantly downward ($ 23,000 instead of the current $ 125,000).