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公开(公告)号：US09012425B2
公开(公告)日：2015-04-21
申请号：US14125063
申请日：2012-06-08
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
IPC分类号： C12N15/11 , A61K48/00 , C07H21/02 , C07H21/04 , C12N15/113
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： 本发明涉及一种在CEP290基因中携带突变c.2991 + 1655A> G的患者中治疗Leber先天性黑蒙的方法，包括向所述患者施用至少一个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中的隐性外显子的剪接所必需的。
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公开(公告)号：US20140179767A1
公开(公告)日：2014-06-26
申请号：US14125063
申请日：2012-06-08
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman
IPC分类号： C12N15/113
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
摘要翻译： 本发明涉及一种在CEP290基因中携带突变c.2991 + 1655A> G的患者中治疗Leber先天性黑蒙的方法，包括向所述患者施用至少一个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
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公开(公告)号：US10597654B2
公开(公告)日：2020-03-24
申请号：US15692669
申请日：2017-08-31
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
IPC分类号： C07H21/02 , C07H21/04 , A61K48/00 , C12N15/11 , C12N15/113
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.2991+1655 A>G CEP290 mRNA.
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公开(公告)号：US20170044533A1
公开(公告)日：2017-02-16
申请号：US15267175
申请日：2016-09-16
申请人： Jean-Michel ROZET , Antoine KICHLER , Isabelle PERRAULT , Josseline KAPLAN , Xavier GERARD , Daniel SCHERMAN , M. Arnold MUNNICH
发明人： Jean-Michel ROZET , Antoine KICHLER , Isabelle PERRAULT , Josseline KAPLAN , Xavier GERARD , Daniel SCHERMAN , M. Arnold MUNNICH
IPC分类号： C12N15/113
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
摘要翻译： 本发明涉及一种在CEP290基因中携带突变c.2991 + 1655A> G的患者中治疗Leber先天性黑蒙的方法，包括向所述患者施用至少一个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
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公开(公告)号：US09487782B2
公开(公告)日：2016-11-08
申请号：US14546124
申请日：2014-11-18
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
IPC分类号： C07H21/02 , C07H21/04 , A61K48/00 , C12N15/11 , C12N15/113
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： 本发明涉及一种在CEP290基因中携带突变c.2991 + 1655A> G的患者中治疗Leber先天性黑蒙的方法，包括向所述患者施用至少一个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中的隐性外显子的剪接所必需的。
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公开(公告)号：US20150111951A1
公开(公告)日：2015-04-23
申请号：US14546124
申请日：2014-11-18
申请人： Jean-Michel ROZET , Antoine KICHLER , Isabelle PERRAULT , Josseline KAPLAN , Xavier GERARD , Daniel SCHERMAN , M. Arnold MUNNICH
发明人： Jean-Michel ROZET , Antoine KICHLER , Isabelle PERRAULT , Josseline KAPLAN , Xavier GERARD , Daniel SCHERMAN , M. Arnold MUNNICH
IPC分类号： C12N15/113
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
摘要翻译： 本发明涉及一种在CEP290基因中携带突变c.2991 + 1655A> G的患者中治疗Leber先天性黑蒙的方法，包括向所述患者施用至少一个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
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公开(公告)号：US20180016579A1
公开(公告)日：2018-01-18
申请号：US15692669
申请日：2017-08-31
申请人： Jean-Michel ROZET , Antoine KICHLER , Isabelle PERRAULT , Josseline KAPLAN , Xavier GERARD , Daniel SCHERMAN , M. Arnold MUNNICH
发明人： Jean-Michel ROZET , Antoine KICHLER , Isabelle PERRAULT , Josseline KAPLAN , Xavier GERARD , Daniel SCHERMAN , M. Arnold MUNNICH
IPC分类号： C12N15/113 , 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 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
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公开(公告)号：US09777272B2
公开(公告)日：2017-10-03
申请号：US15267175
申请日：2016-09-16
申请人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
发明人： Jean-Michel Rozet , Antoine Kichler , Isabelle Perrault , Josseline Kaplan , Xavier Gerard , Daniel Scherman , M. Arnold Munnich
IPC分类号： A61K48/00 , C12N15/11 , C07H21/02 , C07H21/04 , C12N15/113
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.
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9.发明申请Method for Diagnosing or Predicting a Non Syndromic Autosomal Recessive Optic Atrophy, or a Risk of a Non Syndromic Autosomal Recessive Optic Atrophy 审中-公开诊断或预测非综合征常染色体隐性视力萎缩的方法，或非综合征常染色体隐性视神经萎缩的风险公开(公告)号：US20120110684A1
公开(公告)日：2012-05-03
申请号：US13257696
申请日：2010-03-23
申请人： Jean-Michel Rozet , Josseline Kaplan , Isabelle Perrault , Sylvie Gerber , Sylvain Hanein , Arnold Munnich
发明人： Jean-Michel Rozet , Josseline Kaplan , Isabelle Perrault , Sylvie Gerber , Sylvain Hanein , Arnold Munnich
IPC分类号： A61K48/00 , C40B20/00 , A01K67/027
CPC分类号： C12Q1/6883 , A61K48/00 , C07K14/46 , C12Q2600/156 , C12Q2600/172
摘要： The present invention relates to a method for diagnosing or predicting a non syndromic autosomal recessive optic atrophy, or a risk of a non syndromic autosomal recessive optic atrophy.
摘要翻译： 本发明涉及用于诊断或预测非综合征常染色体隐性视神经萎缩的方法或非综合征常染色体隐性视神经萎缩的风险。
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