BioMarin plans to expand its clinical program for vosoritide, its treatment for achondroplasia. This expansion includes two new phase 2 trials, the first of which will evaluate vosoritide in infants at risk of foramen magnum compression. The second is investigator-initiated and will study this therapy’s effect on selected genetic forms of short stature.
About Achondroplasia
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. Besides vosoritide, there are currently no therapies available that are specific to achondroplasia; treatment is symptomatic.
Vosoritide for Infants at Risk of Foramen Magnum Compression
This phase 2 trial will be randomized, open-label, controlled, and include an extension in an effort to evaluate the safety of vosoritide in infants who may require cervicomedullary decompression surgery to combat foramen magnum compression. Along with safety, researchers will investigate how vosoritide affects the growth of the foramen magnum.
As compression of the foramen magnum, a part of the brain, is the most prevalent life-threatening complication for infants with achondroplasia, it is necessary to discover vosoritide’s impact on this condition. To do so, researchers will enroll 20 infants and administer either the standard of care in combination with vosoritide or just the standard of care for two years. After these two years, there will be an extension study for another three.
Vosoritide for Selected Genetic Forms of Short Stature
Children’s National Hospital is sponsoring this phase 2 study, which will investigate vosoritide in children with selected genetic forms of short stature. To do so, they will enroll 35 children that fall into specific categories of short stature and evaluate them for six months. Criteria that researchers are using include safety profile, baseline growth velocity, and quality of life. The primary endpoints of this study are change in baseline in height Z-score, adverse events that are the result of treatment, and change in baseline in annualized growth velocity.
Researchers are very excited to investigate vosoritide as a treatment for short stature outside of achondroplasia. They hope that this therapy will be viable for a larger patient population.
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