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: EP13305796.8
Jean-charles DEYBACHVincent OUSTRICLaurent GOUYAHervé PUY
Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27.



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Elodie Acloque
Elodie Acloque
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Patent filling date: 2013-06-13
Rare disease: Yes

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