Vosoritide in achondroplasia: Hope, hurdles, and the road ahead

e 21 st century has ushered in a revolution in Mendelian disorders.Sequencing of the whole human genome and the advent of high-throughput sequencing technologies have identified genetic etiologies for more than 6,000 genetic disorders.With exome sequencing becoming the first-tier test for possible genetic phenotypes, etiological diagnosis has become easier and is being done by clinicians with and without medical genetics training.e long-awaited gene therapy successes are also among the major highlights of this century.Other than gene therapy, drug therapies based on an understanding of the pathogenesis of the disorders have shown early successes.Enzyme replacement therapies for lysosomal storage disorders, pathway-based treatments for RASopathies, and small interfering RNA-based therapies for acute intermittent porphyria, hypercholesterolemia, primary hyperoxaluria type 1 and hereditary transthyretinmediated amyloidosis are some examples.e drug vosoritide, developed for achondroplasia, is an example of targeting molecular pathology.It has been more than a decade since animal studies showed proof of concept about the effect of vosoritide on the growth plates, and more than 5 years since the first report of its efficacy and safety in children was published.