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公开(公告)号:US20220340901A1
公开(公告)日:2022-10-27
申请号:US17606574
申请日:2020-04-24
申请人: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE) , FONDATION ASILE DES AVEUGLES , UNIVERSITÉ DE PARIS , ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS , FONDATION IMAGINE
IPC分类号: C12N15/113
摘要: The invention relates to the skipping of the CEP290 exon 36 in an individual suffering from a retinal dystrophy accounted for by a nonsense mutation or a premature termination codon generated by a frameshift mutation in exon 36 or an upstream exon, including the c.4723A>T, c.4771C>T, c.4714G>T, c.4786_4790del, c.4791_4794del, c.4732G>T, c.4625_4626insCATG (35), c.4792_4795del, c.4801C>T, c.4805C>T, or c.4811G>A mutations, to bypass protein truncation and lessen retinal damages. Here, studying fibroblasts from control individuals, and two patients carrying the CEP290 c.4723A>T nonsense mutation, they show low levels of spontaneous skipping of exon 36 arising from both endogenous basal skipping and mutation-induced skipping. The minimally shortened and mutation-free CEP290 mRNA produced by skipping of exon 36 in the fibroblasts of the two patients is translated into a protein isoform that localizes at the centrosome and allows the formation of primary cilia, yet with elongated axonemes. Using an AON consisting of a sequence set forth as SEQ ID NO: 1, complementary to a nucleic acid sequence of CEP290 pre-mRNA, wherein said AON targeting an mRNA encoding the donor splice site (H36D) is capable to alter splicing by blocking the recognition of exon 36 and bypass protein truncation while maintaining the open reading frame, leading to the production of near full-length CEP290 protein, they were able to increase the abundance of the alternatively spliced mRNA and shortened protein and to reduce axonemal length in patient cells.
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公开(公告)号:US20220133145A1
公开(公告)日:2022-05-05
申请号:US17436410
申请日:2020-03-05
发明人: Benedetta FRANCESCHIELLO , Lorenzo DI SOPRA , Josefina Adriana Maria BASTIAANSEN , Matthias STUBER , Micah MURRAY , Jerome YERLY
IPC分类号: A61B5/00 , G01R33/48 , G01R33/56 , G01R33/563 , G01R33/567 , G01R33/561 , A61B3/113 , A61B5/055
摘要: The present invention relates to a magnetic resonance eye imaging method, wherein an eye image is obtained from magnetic resonance image data acquired while the eye is moving, comprising determining eye orientation information data during magnetic resonance image data acquisition; binning the acquired magnetic resonance image data into groups according to eye orientation information data; and constructing a magnetic resonance image eye image from a selection of groups of magnetic resonance image data.
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3.
公开(公告)号:US20230097413A1
公开(公告)日:2023-03-30
申请号:US17701884
申请日:2022-03-23
申请人: INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE) , UNIVERSITE PARIS DESCARTES , Sorbonne Universite , Universite Paris Diderot - Paris 7 , Fondation Asile des Aveugles
发明人: Francine BEHAR-COHEN , Min ZHAO
IPC分类号: A61K31/585 , A61K45/06 , A61P27/02 , A61K9/00 , A61K9/16
摘要: The present invention relates to methods and pharmaceutical compositions for the treatment of choroddal neovascularisation. In particular, the present invention relates to a method of treating choroidial neovascularisation in a subject in need thereof comprising administering to the subject of therapeutically effective amount of a mineralocorticoid receptor antagonist.
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公开(公告)号:US20210213013A1
公开(公告)日:2021-07-15
申请号:US17143293
申请日:2021-01-07
IPC分类号: A61K31/496 , A61K45/06 , A61K31/5377 , A61P27/02
摘要: The present disclosure provides inhibitors of one or more subunits of polycomb repressive complex 2 (PRC2) for use in the prevention or the treatment of an eye disorder in a subject in need thereof and methods for treating an eye disorder, e.g. non-cancer disorders, in a subject using a therapeutically effective amount of one or more inhibitors of a subunit of polycomb repressive complex 2 (PRC2).
In certain embodiments of the methods of the disclosure, the eye disorders are characterized by degeneration or cell death of retinal neurons.
In certain embodiments of the methods of the disclosure, the subunit of PRC2 is EZH1 or EZH2, and the inhibitor is an inhibitor of H3K27 trimethylation.-
5.
公开(公告)号:US20180296474A1
公开(公告)日:2018-10-18
申请号:US15765854
申请日:2016-10-12
申请人: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE , UNIVERSITÉ PARIS DESCARTES , SORBONNE UNIVERSITE , UNIVERSITÉ PARIS DIDEROT - PARIS 7 , FONDATION ASILE DES AVEUGLES
IPC分类号: A61K9/00 , A61P27/02 , A61K31/551
摘要: The present invention relates to methods and pharmaceutical compositions for the treatment of retinal capillary non-perfusion. In particular, the present invention relates to a method of treating retinal capillary non-perfusion in a subject in need thereof comprising administering to the subject a therapeutically effective amount of a ROCK inhibitor.
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6.
公开(公告)号:US20180280414A1
公开(公告)日:2018-10-04
申请号:US15765756
申请日:2016-10-12
申请人: INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE) , UNIVERSITE PARIS DESCARTES , Sorbonne Universite , Universite Paris Diderot - Paris 7 , Fondation Asile des Aveugles
发明人: Francine BEHAR-COHEN , Min ZHAO
IPC分类号: A61K31/585 , A61P27/02 , A61K45/06 , A61K9/00 , A61K9/16
摘要: The present invention relates to methods and pharmaceutical compositions for the treatment of choroidal neovascularisation. In particular, the present invention relates to a method of treating choroidal neovascularisation in a subject in need thereof comprising administering to the subject a therapeutically effective amount of a mineralocorticoid receptor antagonist.
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