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The Food and Drug Administration (FDA) recently approved the first drug that treats achondroplasia, the most prevalent form of dwarfism.
Achondroplasia is caused due to mutations in the FGFR3 gene. This gene encodes the instructions needed to build a protein that plays a role in bone growth and development. The mutations push the gene into “overdrive,” which hinders the steps the cartilage tissue takes for replacement by bone.
After this, the development of “short and abnormally-shaped bones” occurs and creates the cause of people with achondroplasia being short in stature. Additionally, the mutations can cause health complications such as recurrent ear infections, sleep apnea, build-up of fluid located in the brain, and skeletal problems that may need surgery to rectify, according to Live Science.
What Drug Treats Achondroplasia?
A U.S.-based company BioMarin Pharmaceutical had been developing and testing a potential treatment for achondroplasia for many years, reported by STAT News in 2019.
The FDA approved the drug, Voxzogo, for children ages five and older. The drug effectively restored the growth of bone in children who have achondroplasia. It subsequently boosts their height.
The drug, also generically known as vosoritide, additionally works through binding to a receptor titled natriuretic peptide receptor-B located in the cartilage and bone tissues. Upon attachment, the drug starts off a chain reaction, which catalyzes bone growth and overrides the effects of the FGFR3 mutation, according to BioMarin Pharmaceutical.
The most familiar side effects of the treatment involved injection site reactions such as the following: itchiness or redness, vomiting, and decreased blood pressure.
Lastly, by year’s end, people who got the drug grew an average of 0.6 inches (1.57 centimeters) taller than participants who were given a placebo. BioMarin Pharmaceuticals suggests this data propitiates that children with achondroplasia could reach children without the condition’s height if treated during childhood.
By Ke’Lena Thomas
Edited by Cathy Milne-Ware
Live Science: 1st drug to treat genetic cause of dwarfism approved by FDA; by Nicoletta Lanese
Featured Image Courtesy of National Cancer Institute’s Unsplash Page – Creative Commons License
Inset Image Courtesy of Cezary Borysiuk’s Flickr Page – Creative Commons License