Mosaic overgrowth syndromes (ex CLOVES syndrome) are very disabling orphan diseases. Except amputation, there is no treatment with sufficient effectiveness at the present time.
Recent research has shown a role of PI3K gene in the cell hyperproliferation process, paving the way for new treatments.
Our lab has shown antiproliferative effects of a specific PI3K molecule on in vitro human cell cultures (blocking the passage to S phase – 39% reduction in cell growth). Those molecular effects are observed further down the metabolic pathway than what has been shown in the latest research on CLOVES syndrome.
As our molecule was more potent in vitro than BYL719 (Alpelisib - a clinically tested inhibitor of the PI3K/AKT pathway) in inhibiting the fibroblasts growth from patient, we believe that this feature gives our molecule higher specificity for treatment.
We filed a patent for this molecule for its use on mosaic overgrowth syndromes, seborrheic keratosis and cutaneous vascular malformations related to PI3K gene.
Since there is no cure for overgrowth syndromes related to PI3K gene, our discovery will probably open a new treatment alternative for patient care.
MARKETS AND APPLICATIONS
TRL 4 : In vitro test on human cells
European patent application filed on October, 31st 2017
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