People who have Cloves syndrome (for Congenital Lipomatous Overgrowth, Vascular Malformation, Epidermal Nævi) or related disorders have major deformities due to mutations in a gene (called PIK3CA) that regulates cell proliferation and growth. When this gene is activated too much, it is responsible for the excessive growth of the parts of the body affected by the mutation.
The most severe forms of this genetic disease cause fatty tissue growths, vascular malformations, scoliosis, a major enlargement of the bones or even deformities of certain organs such as the brain or kidneys.
A treatment currently being tested in oncology
Until now, there was no treatment for this disease. But Dr Guillaume Canaud from the Necker-Enfants Malades hospital and his team have just demonstrated the effectiveness of a new drug, a specific inhibitor called BYL719, in 19 patients followed for Cloves syndrome or related disorders.
This drug is currently being tested in cancer patients. But Dr Canaud has obtained authorization from Novartis to use it also on an experimental basis in a first patient, then in a 9-year-old child suffering from a severe form of Cloves syndrome with vascular swelling for which no embolization surgery was not possible. “BYL719 had a dramatic effect on all symptoms and on vascular swelling “ underline the researchers in a press release.
A medical “first”
Based on these results, the treatment was offered to 17 new patients (14 children and 3 adults aged 4 to 50 years) followed at Necker hospital for whom the prognosis was initiated or mutilating surgery scheduled. From the first days of treatment, all patients presented a dramatic improvement in symptoms as well as reduced fatigue and better resistance to exertion.
No significant side effects were observed 18 months after the start of treatment and the first conclusions have just been presented. in the journal Nature.
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