Adequately Reflecting The Clinical Benefits In Rare Disease Economic Modeling Using Sma Type I As A Casestudy

Spinal muscular atrophy (SMA) is a rare, hereditary, autosomal recessive neuromuscular disorder caused by deletion of the survival motor neuron 1 gene (SMN1). Type I SMA is one of the most severe forms of SMA that affects infants between 0-6 months of age where they never develop the ability to sit and have a short life expectancy. Nusinersen is the first approved treatment for SMA, and prior management of the disease centred on the symptomatic treatment of respiratory, nutritional, and orthopaedic function decline.

Source: Value in Health - October 1, 2017 Category: International Medicine & Public Health Authors: S Zuluaga, C Knight, R Thompson, M Teynor Source Type: research