Only 12 children have ever had access to this treatment worldwide. For the first time in France, a little girl will receive a tmedical treatment for dwarfism, report our colleagues from Parisian.
Named Amandine and 9 years old, the little girl living in Rouen received her first dose of the drug, infigratinib, treatment she will take at the rate of seven pellets per day for at least two years. This medicine is intended to work against the mutated gene responsible for dwarfism : the FGFR3 gene, the resulting excess production of which affects bone growth and ossification.
Against the most common form of dwarfism
Called achondroplasia, this form of dwarfism is the most common, and concerns approximately one in 20,000 births, details in a press release the Imagine Institute, which is conducting the clinical trial in collaboration with the Necker-Enfants Malades Hospital. The mutation of this gene, and therefore the origin of this type of dwarfism, was discovered in 1994. Besides the small size, achondroplasia also causes a risk of compression of the skull and spine, and back problems, which resulted in the little girl wearing a corset daily until the age of three.
So her parents see this clinical trial as an opportunity for Amandine. Aware that infigratinib is not a miracle molecule either, they declared that it “will not cancel the disease, but it will help him: every centimeter gained is a victory”.
Amandine is currently 1.03 meters tall, about 30 cm shorter than other children her age. The researchers hope that the treatment will result in a gain of 10 to 20 cm in two years. Knowing that in the absence of treatment, the average height of adult women with achondroplasia is about 124 cm.