Abstract: Epidermolysis bullosa (EB) is caused by mutations in the COL7A1 gene encoding type VII collagen. EB comprises a phenotypically diverse group of inherited blistering diseases that affect the skin, and possibly mucous membranes and other organs A number of therapeutic strategies have been explored for managing the treatment of EB, such as (i) surgery, (ii) chemotherapy, (iii) use of collagenase activity inhibitors, (iv) use of antibiotics, (v) use of anti-inflammatory compound, (vi) cell therapies, (viii) protein therapy as well as (ix) gene therapy. Gene therapy of EB aimed to provide therapeutic benefit through manipulation of DNA or RNA. Anti-sense therapy targeting specific exons have been described, such as targeting exons 73 and 80. However, this kind of therapeutic strategy had to be improved as regards its pharmaceutical compliance.

Abstract: The present invention also relates to an antisense oligonucleotide complementary to a nucleic acid sequence of COL7A1 gene that is necessary for correct splicing of one or more exons which encode amino acid sequence of type VII collagen implicated in dysfunction of a mutated type VII collagen wherein said exons are selected from the group consisting of exon 73, 74 or 80 of the COL7A1 gene. The present invention also relates to a method for the treatment of a patient suffering from Dystrophic Epidermolysis Bullosa caused by a dysfunction of a mutated type VII collagen, comprising the step of administering to said patient a least one antisense oligonucleotide according to the invention.

Abstract: The present invention also relates to an antisense oligonucleotide complementary to a nucleic acid sequence of COL7A1 gene that is necessary for correct splicing of one or more exons which encode amino acid sequence of type VII collagen implicated in dysfunction of a mutated type VII collagen wherein said exons are selected from the group consisting of exon 73, 74 or 80 of the COL7A1 gene. The present invention also relates to a method for the treatment of a patient suffering from Dystrophic Epidermolysis Bullosa caused by a dysfunction of a mutated type VII collagen, comprising the step of administering to said patient a least one antisense oligonucleotide according to the invention.