Abstract: Congenital aniridia is a rare and severe genetic panocular disease characterized by a complete or partial iris defect clinically detectable at birth. The most common form of aniridia occurring in around 90% cases is caused by PAX6 haploinsufficiency. Ataluren eye-drops aim to restore ocular surface PAX6 haploinsufficiency in Aniridia Related Keratopathy (ARK). However, they are currently no ophthalmic solution available forms. The objective of this study was to assess the physicochemical and microbiological stability of ataluren eye-drop 1% in preservative-free low-density polyethylene (LDPE) bottle with an innovative insert that maintains sterility after opening. Because ataluren is a strongly lipophilic compound, the formulation is complex and involves a strategy based on co-solvents in an aqueous phase or an oily formulation capable of totally dissolving the active ingredient.

Abstract: A topical composition including erlotinib and a pharmaceutically acceptable excipient for use in the treatment of a keratoderma in a child, preferably a palmoplantar keratoderma (PPK), wherein the composition is topically administered. The composition may further include a penetration enhancer. The treated subject may be younger than three years old. Also, woven or non-woven fabric support including erlotinib and to dressings, patches, gloves and socks having the support useful in the treatment of a PPK.

Abstract: The present invention relates to a method for modulating blood-brain barrier (BBB) in a subject comprising a step of administering said subject with a therapeutically effective amount of a modulator of transient receptor potential vanilloid-2 (TRPV2). For the first time, inventors have shown that TRPV2 is present in endothelial cells of BBB. More particularly, Inventor's results show that cannabidiol (CBD), at extracellular concentrations close to those observed in plasma of patients treated by CBD, and induces proliferation, migration, tubulogenesis and TEER increase in human brain endothelial cells, suggesting TRPV2 as a potent target for modulating the human BBB.

Abstract: The present invention relates to a method for promoting wound healing in a subject suffering from Ectodermal dysplasia in need thereof comprising a step of administering subcutaneously, intradermally or topically to said subject a therapeutically effective amount of a compound which restores the activity of p63. Inventors have performed a primary culture of patient keratinocytes suffering from ectodermal dysplasias with two compounds which restore the activity of p63 (e.g. STIMA-1 and/or PRIMA-1Met). They have shown that there is an important differentiation of the keratinocytes of said patient compared to the cells not treated with these compounds. They observed that the activity of p63 mutated is restored, thus the proliferation and differentiation of keratinocytes from the patient are activated. Moreover, inventors have used PRIMA-1Met by topical application on a young patient suffering from ectodermal dysplasias and shown that said patient presents an improvement on her hand.