BioMarin Pharmaceutical Inc. has recently submitted a new drug application (NDA) for their achondroplasia treatment, vosoritide. This once a day injection is for children who live with the disorder, and if it is approved it will offer the first therapeutic option for them.
Achondroplasia is a disorder of the bones that causes dwarfism. This means that affected individuals are short in stature even as adults. The average height of a female with this condition is 4″1, while the average height of a male is 4″4. Along with the physical symptoms, people with achondroplasia experience decreased muscle tone, hydrocephalus, spinal stenosis, and apnea. All of these symptoms are the result of a mutated FGFR3 gene, which is either inherited in an autosomal dominant pattern or sporadic. This mutation causes the over activity of a certain protein, leading to abnormal skeletal development.
Vosoritide for Achondroplasia
Vosoritide is an analog of C-type Natriuretic Peptide and is administered through an injection every day. It is a very important development, as there are currently no treatment options for those with achondroplasia.
BioMarin also submitted a Marketing Authorization Application (MAA) to the European Medicines Agency, which was approved on August 13. Both of these developments are very exciting for children living with achondroplasia and their families, as well as medical professionals. Hopefully the development of this treatment continues to go well.
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