The molecule used was discovered by researchers at Necker Hospital. She could allow the girl to gain ten to twenty centimeters.
- The molecule had given conclusive results in 2016 on an animal model
- Amandine, a 9-year-old French girl, has just benefited from this drug
- She could eventually gain between 10 and 20 centimeters in size
It is a hope for a family and thousands of others. Tuesday March 30, Amandine, nine years old, suffering from achondroplasia, a form of dwarfism, started the trial of a new drug. Infigratinib was initially used in the treatment of bladder cancer, but a team of scientists from Necker Hospital discovered its interest in the management of this anomaly.
Over twenty years of research
In 1994, Dr. Laurence Legeai-Mallet and her team discovered the gene responsible for achondroplasia. It is linked to a mutation of the FGFR3 gene, which then produces the FGFR3 protein in excess. The latter is present in bone and cartilage cells, and when produced in excessive quantities, it disrupts bone growth and ossification. Within the Institute Conceivedlocated on the Necker Hospital campus, the team “has continued to explore the mechanisms deregulated by the alteration of this gene and to develop cellular and animal models to test molecules and develop new therapeutic options“, specifies a communicated.
A promising drug
It took twenty years to find a potential cure. In 2016, Dr Laurence Legeai-Mallet published the conclusive results of a trial conducted with infigratinib. “This molecule reduces the phosphorylation of FGFR3, responsible for its hyperactivity, and corrects abnormal growth in our animal modelsexplains the scientist. We have shown that a low dose, injected subcutaneously, is able to penetrate the growth plate of these models and modify its organization.“A patent has been filed in France, but it is an American laboratory that is developing the drug.
A first administration in Australia
In July 2020, a young Australian started using this treatment. In France, Amandine, nine years old, is the first person to benefit from it. She will need to take seven pills daily for at least two years. They could help prevent the appearance of complications such as ENT disorders or orthopedic or back problems. Also, the girl could be 10 to 20 cm taller than the average woman with the same disorder. Generally, they measure 1.24 m in adulthood. “The only (chance) given to Amandine to grow up, entrusts her mother Valérie to the Parisian. It is not miraculous, it will not cancel the disease, but it will help it: every inch gained is a victoryThe treatment is soon to be tested on a little boy in France. If these various trials are conclusive, adults could also benefit from it. In France, 2,400 people suffer from achondroplasia.
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