In a recent study, a drug was found that helps regulate bone development by interfering with the protein that blocks its growth.
Achondroplasia, the most common type of dwarfism, is found in approximately one out of 26,000 to 40,000 babies and is evident at birth. Among various other prominent features, people with this type of dwarfism have a protruding forehead, long trunk, and protruding jaw. An adult with dwarfism has an average height of 4 feet.
The research conducted at Johns Hopkins Medicine, the Murdoch Children’s Research Institute in Australia, and seven other medical institutions report an experimental drug called vosoritide. It focuses on the fundamental cause of Achondroplasia and directly neutralizes the effect of the mutation that slows growth, by interfering with the protein that hampers the bone growth.
Ravi Savarirayan, Professor at Melbourne’s Murdoch Children’s Research Institute in Australia, said, “This drug basically kinks the hose so that the plant gets the right amount of water and can resume regular growth.”
Vosoritide boosts the average height of a patient to about 6 cm (2.4 inches) per year which is close to growth rates among other children without the same condition, and the drug had minimal side effects, according to study co-author Julie Hoover, Associate Professor at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University.
“Right now, the results of the study show an impact on growth, and this effect is sustained, at least over nearly four years in this trial,” he said.
Phase-2 trial results were published in the New England Journal of Medicine, and it showed that the drug, vosoritide, was mostly well endured by patients.
About one out of two children suffering from Achondroplasia has to go through spinal or other surgery. They need to stay away from school for long, and some also had to be sent to rehabs after the surgery, affecting their social life. But, with the invention of this drug, these surgeries may not be required anymore.
The study was conducted between January 2014 and July 2018, on 35 children (19 girls and 16 boys including two African Americans, two Hispanics, and seven Asians) of 5-14 years. Over the span, they were given daily subcutaneous doses of the drug in increasing amounts. And by the end of the research, it was determined that on average, the children’s annual growth rate increased from below 4 cm every year to below 6 cm.
Hoover-Fong says, “They grew nearly 2 centimetres more, on average, per year, and this rate comes close to the annual growth of average stature people.” He adds, “Importantly, none of the children experienced an anaphylactic reaction to the drug and none developed a low blood pressure problem that required medical intervention, which was a concern with this type of drug.”
The only mild side effect common in all the participants was injection site pain, swelling, headache, cough, and low-grade fever.