Invention Grant
- Patent Title: Methods and pharmaceutical compositions for the treatment of erythropoietic protoporphyria
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Application No.: US14897698Application Date: 2014-06-13
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Publication No.: US09637744B2Publication Date: 2017-05-02
- Inventor: Laurent Gouya , Jean-Charles Deybach , Herve Puy , Vincent Oustric
- Applicant: INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE) , UNIVERSITE PARIS DIDEROT—PARIS 7 , UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES , ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS (APHP)
- Applicant Address: FR Paris FR Paris FR Versailles FR Paris
- Assignee: INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE),UNIVERSITE PARIS DIDEROT—PARIS 7,UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES,ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS (APHP)
- Current Assignee: INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE),UNIVERSITE PARIS DIDEROT—PARIS 7,UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES,ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS (APHP)
- Current Assignee Address: FR Paris FR Paris FR Versailles FR Paris
- Agency: Whitham, Curtis & Cook, P.C.
- Priority: EP13305796 20130613
- International Application: PCT/EP2014/062369 WO 20140613
- International Announcement: WO2014/198890 WO 20141218
- Main IPC: C12N15/11
- IPC: C12N15/11 ; C07H21/04 ; C12N15/113
Abstract:
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.
Public/Granted literature
- US20160122767A1 METHODS AND PHARMACEUTICAL COMPOSITIONS FOR THE TREATMENT OF ERYTHROPOIETIC PROTOPORPHYRIA Public/Granted day:2016-05-05
Information query
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