Disharmonious overgrowth syndromes are a family of rare genetic diseases that are characterized by an abnormal increase in the size and number of cells that make up the body. In 95% of cases, the disease is caused by a mutation of the PIK3CA gene (responsible for regulating cell proliferation and growth) during embryonic development.
Currently, there is no treatment to cure the pathology; management is mainly based on surgery and supportive care (occupational therapy, physiotherapy, etc.).
Good news : this Wednesday, January 26, 2022a team made up of researchers from Inserm, AP-HP, the University of Paris, the Institut Necker-Enfants Malades and the clinical services of the Hospices Civils de Lyon demonstrated the effectiveness of a molecule against disharmonious hypergrowth syndromes.
Alpelisib is a drug used to treat certain forms of breast cancer: this inhibitor of the PIK3CA gene first showed promising results in animals and then in a small number of adults and children with a syndrome disharmonious hypergrowth.
A real improvement in symptoms after 1 year of treatment
Recently, Alpelisib was tested in two babies suffering from disharmonious overgrowth syndromes.
These two children (an 8-month-old girl and a 9-month-old boy at the start of treatment) presented with severe symptoms caused by mutations in the PIK3CA gene: extreme malformations of the blood vessels, excessive and asymmetrical growth of the limbs and fingers as well as, for the boy, excessive growth of a cerebral hemisphere (hemimegalencephaly) and epileptic seizures.
At the beginning of the treatment, the vital prognosis of the little girl was engaged; the little boy, meanwhile, had a serious neurological prognosis.
For a year, the two babies received daily 2 doses of 25 mg of Alpelisib (by mouth). And the results are more than positive: after 12 months, the little boy’s epileptic spasms stopped, the vascular malformations in the little girl decreased (so much so that she was able to walk with help) and the anemia was corrected in both children. The two babies did not develop any adverse effects from the treatment.
“The results of treatment with Alpelisib for these two infants are encouraging because they show an improvement in all the parameters, whether clinical, biological or even radiological.” welcome the researchers.
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