公开(公告)号：US20190167762A1

公开(公告)日：2019-06-06

申请号：US16185248

申请日：2018-11-09

Applicant: GENETHON ,  ROYAL HOLLOWAY AND BEDFORD NEW COLLEGE

Inventor： George Dickson ,  Thomas Voit ,  Philippe Moullier ,  Caroline Le Guiner

IPC: A61K38/17 ,  C12N15/86 ,  A61K48/00 ,  C12N7/00

Abstract: A composition comprising a gene therapy product for use in the treatment of a dystrophic disease in a subject, advantageously in humans, wherein: the gene therapy product comprises a nucleic acid sequence encoding a functional microdystrophin; the composition is systemically administered.

公开(公告)号：US20180256752A1

公开(公告)日：2018-09-13

申请号：US15988728

申请日：2018-05-24

Applicant: GENETHON ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

Inventor： Ana Maria Buj Bello ,  Isabelle Richard

IPC: A61K48/00 ,  C12N9/64 ,  A61K38/46 ,  A61K38/48 ,  C12N9/16 ,  C12N15/86

CPC classification number: A61K48/0066 ,  A61K38/465 ,  A61K38/4873 ,  A61K48/0058 ,  A61K48/0075 ,  C07K14/4707 ,  C12N9/16 ,  C12N9/6472 ,  C12N15/86 ,  C12N2750/14132 ,  C12N2750/14143 ,  C12N2830/008 ,  C12Y301/03048 ,  C12Y304/22054

Abstract: The present invention relates to an expression system for systemic administration comprising a sequence encoding a protein, said expression system allowing: the expression at a therapeutically acceptable level of the protein in the target tissues including skeletal muscles; and the expression at toxically acceptable level of the protein in tissues other than the target tissues, especially in the heart.

公开(公告)号：US20180100144A1

公开(公告)日：2018-04-12

申请号：US15569203

申请日：2016-04-27

Applicant: GENETHON ,  INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE) ,  UNIVERSITE D'EVRY VAL D'ESSONNE

Inventor： Ana Maria BUJ BELLO ,  Mirella LO SCRUDATO

IPC: C12N15/10 ,  C12N15/11

CPC classification number: C12N15/102 ,  C12N15/111 ,  C12N2310/10 ,  C12N2310/20 ,  C12N2320/30 ,  C12Q2521/319

Abstract: The present invention relates to compositions and methods for the treatment of nucleotide repeat expansion disorders such as myotonic dystrophy.

公开(公告)号：US20180066283A1

公开(公告)日：2018-03-08

申请号：US15713347

申请日：2017-09-22

Applicant: GENETHON ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

Inventor： Martine BARKATS

IPC: C12N15/86

CPC classification number: C12N15/86 ,  A61K48/00 ,  C12N2750/14143 ,  C12N2830/008

Abstract: The present invention relates to compositions and methods, in particular to methods based on systemic injection of rAAV, for delivering genes to cells of the central nervous system in mammals, such as brain neurons or glial cells, and in particular to motor neurons or glial cells of the spinal cord The invention also relates to methods of treating motor neuron disorders in mammals by expression of therapeutic genes. The invention stems from the unexpected discovery that peripheral injection of AAV vectors leads to a bypass of the blood brain barrier and a massive infection of motor neurons. The invention may be used in any mammal, including human subjects.

公开(公告)号：US20170028036A1

公开(公告)日：2017-02-02

申请号：US15303834

申请日：2015-04-27

Applicant: GENETHON ,  INTERNATIONAL CENTER FOR GENETIC ENGINEERING AND BIOTECHNOLOGY

Inventor： FEDERICO MINGOZZI ,  GIUSEPPE RONZITTI ,  FANNY COLLAUD ,  ANDRÉS MURO ,  GIULIA BORTOLUSSI

IPC: A61K38/45 ,  C12N9/10 ,  C12N7/00 ,  A61K48/00 ,  C12N15/86

Abstract: The invention relates to a nucleic acid sequence useful in the treatment of hyperbilirubinemia, in particular in the treatment of Crigler-Najjar syndrome. More particularly, the nucleic acid sequence of the present invention is a codon-optimized UGT1A1 coding sequence.

Abstract translation: 本发明涉及可用于治疗高胆红素血症的核酸序列，特别是治疗克里格勒 - 纳济氏综合症。 更具体地，本发明的核酸序列是密码子优化的UGT1A1编码序列。

公开(公告)号：US20170002332A1

公开(公告)日：2017-01-05

申请号：US15105880

申请日：2014-12-17

Applicant: GENETHON

Inventor： DRISS BOUDEFFA ,  OTTO-WILHELM MERTEN ,  DAVID FENARD

IPC: C12N7/00 ,  C12N15/86

CPC classification number: C12N7/00 ,  C12N15/86 ,  C12N2740/15043 ,  C12N2740/15051 ,  C12N2740/16043 ,  C12N2740/16051

Abstract: The invention relates to a process for purifying enveloped viruses. The process of the invention is useful for recovering at a large scale enveloped viruses under conditions complying with good manufacturing practices and allowing viruses of a clinical grade to be obtained.

Abstract translation: 本发明涉及一种净化包膜病毒的方法。 本发明的方法可用于在符合良好制造实践和允许获得临床级病毒的条件下在大规模包膜病毒下恢复。

公开(公告)号：US09415120B2

公开(公告)日：2016-08-16

申请号：US14595540

申请日：2015-01-13

Applicant: Wake Forest University Health Sciences ,  Genethon ,  Children's Medical Center Corporation

Inventor： Martin K. Childers ,  Alan H. Beggs ,  Ana Maria Buj Bello

IPC: A61K48/00 ,  C12N9/16 ,  C07H21/00 ,  C07H21/04 ,  C12N15/00 ,  C12P21/06

CPC classification number: A61K38/465 ,  A61K48/005 ,  A61K48/0058 ,  C12N7/00 ,  C12N9/16 ,  C12N2750/14143 ,  C12Y301/03 ,  C12Y301/03064

Abstract: The present invention provides compositions and methods for treating a myopathy. In certain embodiments, the invention provides compositions and methods for treating, improving muscle function, and prolonging survival in a subject with X-linked myotubular myopathy (XLMTM). The present invention provides a method comprising systemic administration of a composition that induces the increased expression of myotubularin in the muscle of a subject. The invention provides sustained regional and global increases in muscle function.

Abstract translation: 本发明提供了治疗肌病的组合物和方法。 在某些实施方案中，本发明提供用X联合肌管肌病（XLMTM）治疗，改善肌肉功能并延长受试者的存活的组合物和方法。 本发明提供了一种包括全身施用组合物的方法，所述组合物诱导肌体蛋白在受试者的肌肉中的增加的表达。 本发明提供持续的区域和全球肌肉功能的增加。

公开(公告)号：US20140342937A1

公开(公告)日：2014-11-20

申请号：US14364338

申请日：2012-12-14

Applicant: GENETHON ,  ASSOCIATION INSTITUT DE MYOLOGIE

Inventor： Laurence Jeanson-Leh ,  David Israeli ,  Fatima Amor ,  Thomas Voit

IPC: C12Q1/68

CPC classification number: C12Q1/6881 ,  C12Q1/6883 ,  C12Q2600/112 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/178

Abstract: The invention relates to the diagnosis, the follow-up and the evaluation of the efficacy of a treatment of a muscular dystrophy by detection of microRNA in a body fluid, in particular in the urine.

Abstract translation: 本发明涉及通过检测体液中特别是尿液中的微小RNA来诊断，评估和治疗肌营养不良症的疗效。

公开(公告)号：US20140315294A1

公开(公告)日：2014-10-23

申请号：US14359960

申请日：2012-11-26

Applicant: GENETHON

Inventor： Nicolas Marceau ,  Mehdi Gasmi

IPC: C12N15/86 ,  C12N7/00

CPC classification number: C12N15/86 ,  C12N7/00 ,  C12N7/02 ,  C12N2740/10051 ,  C12N2740/15011 ,  C12N2740/16051

Abstract: The present invention relates to the industrialization of the production of recombinant lentiviral vectors in order to manufacture sufficient materials for therapeutic applications such as gene therapy and/or DNA vaccination, for use in clinical trials and/or commercial use.

Abstract translation: 本发明涉及生产重组慢病毒载体的工业化，以便制备用于治疗应用的足够材料，例如用于临床试验和/或商业用途的基因治疗和/或DNA疫苗接种。

公开(公告)号：US20250127930A1

公开(公告)日：2025-04-24

申请号：US18991814

申请日：2024-12-23

Applicant: GENETHON ,  INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE ,  SORBONNE UNIVERSITÉ ,  UNIVERSITE D'EVRY VAL D'ESSONNE ,  ASSOCIATION INSTITUT DE MYOLOGIE

Inventor： FEDERICO MINGOZZI ,  PASQUALINA COLELLA

IPC: A61K48/00 ,  C12N15/86

Abstract: The present invention relates to hybrid transcription regulatory elements to drive gene expression, in particular hybrid promoters, designed by the fusion of at least two transcription regulatory elements with different tissue selectivity, such as two promoters driving expression in different tissues in a tissue-selective manner.