In early November, global biotechnology company BioMarin Pharmaceutical Inc. (“BioMarin”) announced the acceptance of its New Drug Application (NDA) for vosoritide. The investigational injectable treatment is designed to treat pediatric patients with achondroplasia. Currently, this NDA approval is the first ever of its kind.

Vosoritide

As BioMarin explains on their website:

To counteract the effects caused by the FGFR3 mutation, BioMarin has developed vosoritide, an investigational drug derived from a natural human peptide that is a positive regulator of bone growth. Vosoritide binds to a specific receptor, which initiates intracellular signals that inhibit the overactive FGFR3 pathway.

In the NDA, BioMarin included data from Phase 2 and Phase 3 clinical trials. Throughout the first trial, researchers analyzed vosoritide’s impact on bone growth and safety, including 5-years of follow-up data. In the 2nd study, researchers compared vosoritide to a placebo over a 1-year period.

Additionally, BioMarin hopes to enroll 70 pediatric patients in a Phase 2 clinical trial to evaluate the safety, efficacy, and tolerability of this investigational treatment. In the trial, researchers will continue to analyze how the treatment impacts or affects bone growth. Additional assessments will analyze sleep apnea, function, and quality of life (QOL). If approved, vosoritide would be the first treatment for pediatric patients with achondroplasia. Currently, the treatment received Orphan Drug designation in both the EU and U.S. The European Medicines Agency also approved of the Marketing Authorization Application (MAA) in Europe.

Achondroplasia

Typically, FGFR3 gene mutations cause achondroplasia, a bone growth disorder resulting in dwarfism. Normally, FGFR3 codes for a protein that helps with healthy bone growth and maintenance. However, FGFR3 mutations cause an overactive protein, preventing normal skeletal development. In many cases, the gene mutation causing achondroplasia is random (not inherited). However, it can be inherited in an autosomal dominant pattern.

Achondroplasia is the most common form of disproportionate dwarfism. Basically, people with achondroplasia have a normal sized torso, but short limbs and a short stature. On average, an adult male with achondroplasia is 4 feet, 4 inches tall; a female with achondroplasia is around 4 feet, 1 inch tall. During skeletal development, cartilage ossifies and becomes bone. However, this process does not happen as it should in those with achondroplasia.

Symptoms and characteristics include:

• A short stature, with short arms, legs, and fingers
• Abnormally large head and forehead, particularly when compared to the rest of the body
• Obesity
• Bowed legs
• Difficulty bending elbows
• Chronic and frequent ear infections
• Abnormal spine curvature
• Apnea (slowed or stopped breathing)
• Low muscle tone
• Spinal stenosis, or a narrowing of the spinal canal
• Hydrocephalus
• Back pain

Learn more about achondroplasia.