Exon skipping therapy of erythropoietic protoporphyria

The present invention relates to methods and pharmaceutical compositions for the treatment of Erythropoietic Protoporphyria. In particular, the present invention relates to a method for increasing the amount of functional FECH in a erythroid cell carrying the hypomorphic allele IVS3 48C/T (rs2272783) in trans to a deleterious mutation in the FECH gene comprising the step of consisting of bringing the erythroid cell into contact with at least one antisense oligonucletotide (ASO) comprising the sequence 5’ gcagcctgagaaatgtttt 3’ to prevent splicing of the cryptic exon inserted into the mutant IVS3 48C/T (rs2272783) FECH mRNA.

Keywords: Exon Skipping, Erythropoietic Protoporphyria, Orphan Drug Disease, Ferrochelatase
Patent Application number: European Procedure (Patents) (EPA) - 13 Juin 2013 - 13 305 796.8
DEYBACH Jean-charlesOUSTRIC VincentPUY Hervé
Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27.



    Business Developper
    Elodie Acloque
    Business Developer
    Patent filling date: 13-06-2013
    Rare disease: Yes
    Second indication: No

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