Methods and pharmaceutical compositions for the treatment of erythropoietic protoporphyria

Number of patents in Portfolio can not be more than 2000

United States of America Patent

PATENT NO 9873877
SERIAL NO

15468157

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Abstract

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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.

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Patent Owner(s)

Patent OwnerAddress
INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE)PARIS FRA
UNIVERSITE PARIS DIDEROT - PARIS 75 RUE THOMAS MANN PARIS 75013
UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES78035 VERSAILLES CÉDEX
ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS (APHP)3 AVENUE VICTORIA PA 75004

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Deybach, Jean-Charles Paris, FR 2 12
Gouya, Laurent Paris, FR 3 12
Oustric, Vincent Paris, FR 2 12
Puy, Herve Paris, FR 2 12

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