Abstract
Haluk Topaloglu,Yeditepe University School of MedicineDepartment of Pediatricsİstanbul, Turkey
Highlights
Is a typical scenario which is relevant when looking at several other progressive and life-threatening genetic disorders
Two alternative therapies appeared simultaneously: Nusinersen, an intrathecally administered oligonucleotide molecule to promote the transcript from the homologous gene SMN2 [1], and a AAV9 virus based on SMN1 gene therapy [2]
An incremental cost-effectiveness ratio represents the additional cost of an intervention per effectiveness unit (e.g., quality-adjusted life-years (QALYs) gained)
Summary
Is a typical scenario which is relevant when looking at several other progressive and life-threatening genetic disorders. A few years ago, we had almost zero options apart from standard care measures, such as respiratory support, adequate nutrition, vaccinations, physiotherapy and similar; in other words, the situation was desperate. Nusinersen, an antisense oligonucleotide therapy in SMA, has already been given to around 9,000 cases globally within a study frame or at a routine treatment facility, and as gene therapy in over 350 cases, again with a similar outline [3, 4].
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