10 people per every million inhabitants suffer from EBEB is part of the group of chronic and hereditary skin diseases, which may cause spontaneous or induced blisters, which appear even after a minimal trauma.
In its pathogenesis, there might be a connection between the collagen VII deficiency and a too high bioavailability and overproduction of TGF-β1 (Transforming growth factor beta 1). Overproduction of the latter could be counteracted with compounds that increase endoglin levels.
In the experiment, two drugs, raloxifene and N-acetylcysteine, that are commonly used for treating other diseases, have been tested for increasing the protein level of endoglin and reducing the TGF-β1 ligand. The transforming growth factor is a protein involved in cellular processes and it is essential in embryogenesis and development.
Two commonly used drugs for treating other diseases, raloxifene and N-acetylcysteine, were used to increase the protein level of endoglin and reduce TGF-β1
Overexposure of TGF-β1 causes an extreme sensitivity in the skin (like the wings of a butterfly). EB is a chronic disease that causes wounds with the simple actions of everyday’s life,such as walking, ending in the detachment of the skin and pain. Some sources estimate there are 10 people affected per million inhabitants. In Spain, there are about 500 families with one person suffering from the disease.
Repositioning the drugs is proposed as potentially useful in the treatment of EB. The therapeutic benefit of its use would improve the quality of life of patients. Pharmaceutical companies interested in licensing the patent for its potential clinical use are sought.
Contact:
Alejandra García Alonso
Centro de Investigaciones Biológicas CIB-CSIC
Vicepresidencia Adjunta de Transferencia de Conocimiento del CSIC
Tel.: + 34 – 91 8373112 ext. 4255
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