An international team is working on a new treatment that promises to reduce the impact of achondroplasia that causes dwarfism. If this research concerns future generations, it seems important that society changes its attitude towards members of the current generation in order to improve their quality of life.
Achondroplasia is defined as a constitutional disease of bone and is the most common cause of dwarfism. It is responsible for a shortening of the root of the limbs and a characteristic face. Achondroplasia affects 1 in 20,000 births and affects approximately 250,000 people worldwide. However, it is not a disease per se, as those affected can still lead a normal life . In addition, their cognitive abilities are generally operational, except in certain severe cases.
At the origin of achondroplasia, we find a mutation of the gene coding for the FGFR3 protein , FGF growth factor receptor no longer able to free itself from FGFR3. This sort of "sequestration" inhibits the growth and differentiation of chondrocytes, cartilage cells that help build bone. However, achondroplasia causes a decrease in the growth of long bones.
A study published in The Lancet journal in September 2020 detailed a new treatment that showed encouraging results in a Phase 3 clinical trial . This trial was carried out in 24 hospitals in several countries:Australia, Germany, Japan, Spain, Turkey, United States and United Kingdom. Researchers suggest an additional growth of about 1.5 centimeters per year in children aged five to eighteen . As part of the trial, the researchers used vorositide, a hormone-mimicking drug:natriuretic factor type C to stimulate chondrocytes in the formation of bone tissue.
“Children who participated in the clinical trial will continue treatment until they reach adult height to see if this effect on growth will continue. continue in the long term and if it will have a real impact on the final height of these people “, said Ravi Savarirayan, of the Murdoch Institute of Pediatric Research (Australia) and lead author of the study.
If successful, next generations of people with achondroplasia may be a little taller and therefore possibly better accepted. It is indeed a medical problem to which is unfortunately added a social handicap in connection with the gaze of others. Their appearance and morphology being different, the appearance of people with dwarfism sometimes leads to exclusion and discrimination. Until today, there was no treatment, but research is progressing. While waiting for a treatment to be definitively validated and put on the market, it seems urgent to act against social handicap by changing our view of short people.
