Last week, biotechnology company BioMarin announced that Dr. Lynda Polgreen, MD, MS would present at the American Society for Bone and Mineral Research (ASBMR) Annual 2020 Meeting. Her presentation centered around a Phase 3 clinical trial analyzing the efficacy, safety, and tolerability of vosoritide for pediatric patients up to age 18 with achondroplasia.
Enrolled in the trial were 121 pediatric patients with achondroplasia between the ages of 5 and 14. First, patient growth was analyzed for six months. Next, researchers treated patients whose growth plates were open with vosoritide to determine its impact. While the results were promising, researchers will continue treating patients in an open-label extension study until they reach their full height. This will inform researchers to whether or not vosoritide assists with growth.
BioMarin submitted a New Drug Application (NDA) to the FDA. Their Marketing Authorization Application for Europe has already been approved. In addition, the FDA granted Orphan Drug designation to vosoritide.
Caused by FGFR3 gene mutations, achondroplasia is a bone growth disorder. Normally, FGFR3 instructs the body to create proteins necessary for bone growth and maintenance. However, the mutations cause this protein to be overactive. Patients with achondroplasia do not usually inherit the gene. Rather, their condition is a result of a spontaneous mutation. As a result, normal skeletal development is interrupted, leading to dwarfism. In the case of achondroplasia, there is a problem with how cartilage is converted to bone. Achondroplasia causes a short stature and short limbs with a normal-sized torso. Generally, the average male with achondroplasia is 4’4″, with the average female being 4’1″. Currently, throughout the world, there are no approved treatments.
Physical characteristics and other health symptoms include:
- An abnormally large forehead
- A disproportionately large head
- Middle and ring fingers which point away from each other
- Sleep apnea
- Spinal stenosis
- Bowed legs
- Frequent ear infections
- Low muscle tone
Learn more about achondroplasia.