| 发明名称 | Methods and pharmaceutical compositions for the treatment of erythropoietic protoporphyria | ||
| 摘要 | 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. | ||
| 申请公布号 | US9637744(B2) | 申请公布日期 | 2017.05.02 |
| 申请号 | US201414897698 | 申请日期 | 2014.06.13 |
| 申请人 | 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) | 发明人 | Gouya Laurent;Deybach Jean-Charles;Puy Herve;Oustric Vincent |
| 分类号 | C12N15/11;C07H21/04;C12N15/113 | 主分类号 | C12N15/11 |
| 代理机构 | Whitham, Curtis & Cook, P.C. | 代理人 | Whitham, Curtis & Cook, P.C. |
| 主权项 | 1. 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: 2 (5′ gcagcctgagaaatgtttt 3′) to prevent splicing of the cryptic exon inserted into the mutant IVS3 48C/T (rs2272783) FECH mRNA. | ||
| 地址 | Paris FR | ||