BioMarin has submitted a marketing application to the European Medicines Agency (EMA) for vosoritide, an investigational, once daily injection analog of C-type Natriuretic Peptide (CNP) for children with achondroplasia, the most common form of disproportionate short stature in humans.
Achondroplasia is characterised by slowing of endochondral ossification, which results in disproportionate short stature and disordered architecture in the long bones, spine, face and base of the skull.
Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face hypoplasia, permanent sway of the lower back, spinal stenosis and recurrent ear infections.
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), a negative regulator of bone growth.
Vosoritide, which is derived from a natural human peptide that is a positive regulator of bone growth, binds to a specific receptor, which initiates intracellular signals that inhibit the overactive FGFR3 pathway.
Its marketing application is based on the outcomes from the randomised, double-blind, placebo-controlled Phase III study evaluating the efficacy and safety of the drug, and is further supported by the long-term safety and efficacy from the ongoing Phase II and Phase III extension studies.
If approved, vosoritide would be the first medicine for the treatment of achondroplasia in Europe.
“Years of scientific research have led to this important point in the development of the potentially first pharmacological treatment option for children with achondroplasia,” said Hank Fuchs, president Worldwide Research and Development at BioMarin.
“We have worked alongside patient advocacy groups from around the world throughout the development, and we appreciate the implications of developing a treatment option for this community, recognising that this potential new treatment would offer a choice for families who have a child with achondroplasia.”
"Our goal is to provide a treatment option that addresses the underlying cause of the condition and over time demonstrate a reduction of complications that may result from achondroplasia.”
"This is an important milestone bringing the achondroplasia community one step closer to a potential therapy," added Klaus Mohnike, Professor of Paediatrics at Magdeburg University Hospital in Germany and investigator for the vosoritide clinical programme.
"Our scientific and medical knowledge around skeletal dysplasias and achondroplasia in particular continues to increase, which can help us treat the underlying cause of the condition and potentially make a meaningful impact on the lives of children with achondroplasia."