BioMarin is a global biotechnology company dedicated to the development and commercialization of innovative therapies for patients with serious and life-threatening rare genetic diseases. Recently, the company announced that it plans to submit a marketing application for vosoritide (Voxoritide, BMN111) to the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) in the third quarter of 2020. Its marketing application is currently under review, but if the marketing application is approved, vosoritide will become the first drug for the treatment of achondroplasia in the United States and the European Union.

Achondroplasia is the most common disproportionate short stature in humans, and it is an autosomal dominant genetic disease. On a global scale, achondroplasia affects the lives of 250,000 people. It is characterized by slowed endochondral ossification, leading to disproportionate shortness and structural disorders of long bones, spine, face and skull base. Patients with achondroplasia may also experience serious complications, including large foramen compression, sleep apnea, bent legs, facial hypoplasia, permanent lower back swings, spinal stenosis, and repeated ear infections. Chondroplasia is caused by mutations in the fibroblast growth factor receptor 3 gene (FGFR3), which is a negative regulator of bone growth.

The natural human peptide is a positive regulator of bone growth. Vosoritide is a C-type natriuretic peptide (CNP) analog derived from natural human peptides and is an effective stimulator of endochondral ossification. Vosoritide binds to specific receptors and inhibits the intracellular signals of the overactive FGFR3 pathway. vosoritide has been granted the orphan drug designation for the treatment of achondroplasia.

In mid-November 2019, BioMarin announced that its research drug vosoritide has significantly improved the growth of patients in phase 2 clinical trial for the treatment of children with achondroplasia. Compared with the natural condition of patients, the average height of patients taking Vosoritide increased by 9 cm in the 54-month study.

John a. Phillips, an investigator of the vosoritide clinical project and doctor of medicine at Vanderbilt University Medical Center, said: “vosoritide has the potential to be the first treatment for achondroplasia. This will be a major breakthrough in medicine. It will provide doctors with a new tool for the treatment of achondroplasia. As a therapist, I look forward to therapeutic interventions that go beyond treating symptoms, which will have a lasting positive impact on children with achondroplasia.”