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AssigneesInserm (Institut National De La Sante Et De La Recherche Medicale), Universite Paris Diderot—Paris 7, Universite de Versailles Saint-Quentin-en-Yvelines, Assistance Publique-HôPitaux De Paris (Aphp)
InventorsLaurent Gouya, Jean-Charles Deybach, Herve Puy, Vincent Oustric
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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 oligonucleotide (ASO) comprising the sequence as set forth by SEQ ID NO: 2 (5′ gcagcctgagaaatgtttt 3′) to prevent splicing of the cryptic exon inserted into the mutant IVS3 48C/T (rs2272783) FECH mRNA.
A method for increasing the amount of functional FECH in an erythroid cell carrying the hypomorphic allele IVS3 48C/T (rs2272783) in trans to a deleterious mutation in the FECH gene comprising the step of bringing the erythroid cell into contact with at least one antisense oligonucleotide (ASO) consisting of the sequence as set forth by SEQ ID NO:
A method for the treatment of Erythropoietic Protoporphyria in a patient harbouring the common hypomorphic allele IVS3 48C/T (rs2272783) in trans to a deleterious mutation in the FECH gene, comprising
A pharmaceutical composition comprising at least one antisense oligonucleotide (ASO) selected from the group consisting of Locked Nucleic Acid (LNA) oligonucleotides, morpholinos oligonucleotides, tricyclo-DNA-antisense oligonucleotides, and U7- or U1-mediated ASO or conjugate products thereof which consists of the sequence as set forth by SEQ ID NO:
Dependencies are inferred from the claim text.