公开(公告)号：EP2718437A1

公开(公告)日：2014-04-16

申请号：EP12729421.3

申请日：2012-06-08

申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) ,  Centre National de la Recherche Scientifique (CNRS) ,  GENETHON

发明人： ROZET, Jean-Michel ,  KICHLER, Antoine ,  PERRAULT, Isabelle ,  KAPLAN, Josseline ,  GERARD, Xavier ,  SCHERMAN, Daniel

IPC分类号： C12N15/113 ,  A61P27/02

CPC分类号： C12N15/113 ,  A61K48/005 ,  C12N15/1137 ,  C12N2310/11 ,  C12N2310/321 ,  C12N2310/346 ,  C12N2310/3517 ,  C12N2320/33 ,  C12N2320/34 ,  C12N2310/3521

摘要： The present invention relates to a method for treating a Leber congenital amaurosis in a patient harboring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA.

摘要翻译： 本发明涉及一种用于治疗患有CEP290基因突变c.2991 + 1655A> G的患者的Leber先天性黑素瘤的方法，包括向所述患者施用至少一种与核酸序列互补的反义寡核苷酸的步骤 这是防止插入到突变体c.2291 + 1655A> G CEP290 mRNA中的神经外显子的剪接所必需的。

公开(公告)号：EP3378938A1

公开(公告)日：2018-09-26

申请号：EP18168531.4

申请日：2012-06-08

申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) ,  Centre National de la Recherche Scientifique ,  Genethon ,  Université Paris Descartes ,  ENSCP - Chimie ParisTech École Nationale Supérieure de Chimie de Paris ,  Universite d'Evry Val d'Essonne ,  Assistance Publique - Hôpitaux de Paris

发明人： ROZET, Jean-Michel ,  KICHLER, Antoine ,  PERRAULT, Isabelle ,  KAPLAN, Josseline ,  GERARD, Xavier ,  SCHERMAN, Daniel ,  MUNNICH, Arnold

IPC分类号： C12N15/113 ,  A61P27/02

CPC分类号： C12N15/113 ,  A61K48/005 ,  C12N15/1137 ,  C12N2310/11 ,  C12N2310/321 ,  C12N2310/346 ,  C12N2310/3517 ,  C12N2320/33 ,  C12N2320/34 ,  C12N2310/3521

摘要： The present invention relates to a method for treating a Leber congenital amaurosis in a patient harbouring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA

公开(公告)号：EP2718437B1

公开(公告)日：2018-05-09

申请号：EP12729421.3

申请日：2012-06-08

申请人： Institut National de la Santé et de la Recherche Médicale (INSERM) ,  Centre National de la Recherche Scientifique (C.N.R.S.) ,  GENETHON ,  Université Paris Descartes ,  ENSCP - Chimie ParisTech École Nationale Supérieure de Chimie de Paris ,  Assistance Publique Hôpitaux de Paris

发明人： ROZET, Jean-Michel ,  KICHLER, Antoine ,  PERRAULT, Isabelle ,  KAPLAN, Josseline ,  GERARD, Xavier ,  SCHERMAN, Daniel ,  MUNNICH, Arnold

IPC分类号： C12N15/113 ,  A61P27/02 ,  A61K48/00

CPC分类号： C12N15/113 ,  A61K48/005 ,  C12N15/1137 ,  C12N2310/11 ,  C12N2310/321 ,  C12N2310/346 ,  C12N2310/3517 ,  C12N2320/33 ,  C12N2320/34 ,  C12N2310/3521

摘要： The present invention relates to a method for treating a Leber congenital amaurosis in a patient harboring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.2291+1655 A>G CEP290 mRNA.