A team of French doctors indicates Wednesday January 26 have encouraging results in treating two infants with disharmonious hypergrowth, rare genetic diseases, thanks to a treatment already used to treat certain cancers.
A team of researchers from Inserm, AP-HP and University of Paris, reported on Wednesday January 26 in a press release the encouraging results of a treatment on two infants suffering from severe forms of disharmonious hypergrowth syndromes, rare genetic diseases associated with a mutation of the PIK3CA gene. “The results of the treatment of these two infants are encouraging because they show an improvement in all the parameters, whether clinical, biological or even radiological.“, can we read in this press release.
These two infants, an 8-month-old girl and a 9-month-old boy at the start of treatment, were treated with Alpelisib, a molecule used against certain cancers, for a period of one year. Their symptoms included extreme malformations of blood vessels, anemia, asymmetrical overgrowth of limbs and fingers, and, in the boy’s case, overgrowth of one cerebral hemisphere (hemimegalencephaly) associated with epileptic seizures. . Before the start of treatment, the vital prognosis of the girl was engaged, and the boy presented a serious neurological prognosis, not responding to conventional antiepileptics.
12 months of treatment made it possible to put an end to the epileptic spasms of the boy and to reduce the number of vascular malformations of the girl. The considerable reduction in the volume of his right leg allowed him to stand and to be able to walk with assistance. The anemia was corrected in both children following the introduction of treatment. The two children presented with a break in their height-weight growth curves (when the weight or height departed from the curve indicating the norm) which corrected itself after the introduction of Alpelisib.
Furthermore, they did not develop any adverse effects related to the treatment. The high efficacy observed may be related to the early introduction of Alpelisib. “It is very likely that the plasticity of the tissues at this age allows for better treatment efficacy”, explains Professor Guillaume Canaud, coordinator of the study. “These results must however be interpreted with caution and will need to be confirmed over time and through new follow-ups”, he nuances.
This treatment with Alpelisib for hypergrowth syndromes continues to be the subject of clinical trials among a population of adults but also children from the age of 6 years. These encouraging results make it possible to consider an extension of authorizations to treat severe neonatal forms in the clinic.