公开(公告)号：US20180127728A1

公开(公告)日：2018-05-10

申请号：US15841359

申请日：2017-12-14

Applicant: GENETHON

Inventor： OTTO-WILHELM MERTEN ,  MARTIN MAREK ,  MONIQUE VAN OERS

IPC: C12N7/00 ,  C12N15/86

CPC classification number: C12N7/00 ,  C12N15/86 ,  C12N2710/14143 ,  C12N2710/14152 ,  C12N2750/14143 ,  C12N2800/50

Abstract: The present invention relates to methods for the production of biopharmaceuticals implementing a baculovirus-based system. These methods advantageously allow the production of biopharmaceuticals with a reduced number of or without contaminating baculoviral virions.

公开(公告)号：US20170071972A1

公开(公告)日：2017-03-16

申请号：US15304219

申请日：2015-04-20

Applicant: GENETHON ,  WAKE FOREST UNIVERSITY HEALTH SCIENCES

Inventor： Ana Maria Buj Bello ,  Martin K. Childers

IPC: A61K31/7088 ,  A61K9/00

CPC classification number: A61K31/7088 ,  A61K9/0019 ,  C12N15/86 ,  C12N2750/14141 ,  C12N2750/14143 ,  C12N2830/008

Abstract: A composition comprising a molecule for use in the delivery of the molecule to the peripheral nervous system (PNS) and/or to the central nervous system (CNS), wherein the composition is administered by regional infusion.

Abstract translation: 包含用于将分子递送至周围神经系统（PNS）和/或中枢神经系统（CNS）的分子的组合物，其中所述组合物通过局部输注施用。

公开(公告)号：US20160334417A1

公开(公告)日：2016-11-17

申请号：US15110868

申请日：2015-01-09

Applicant: GENETHON

Inventor： JEREMY ROUILLON ,  FEDOR SVINARTCHOUK ,  JEROME POUPIOT ,  ISABELLE RICHARD

IPC: G01N33/68

CPC classification number: G01N33/6887 ,  G01N2800/2878 ,  G01N2800/50 ,  G01N2800/52

Abstract: The invention relates to a method for prognosing, diagnosing, determining the risk, and monitoring the evolution of a muscular dystrophy. It also relates to a method for evaluating the efficacy of a treatment of a muscular dystrophy in a subject in need thereof.

Abstract translation: 本发明涉及一种预测，诊断，确定风险并监测肌营养不良症进展的方法。 本发明还涉及评价有需要的受试者的肌营养不良症的疗效的方法。

公开(公告)号：US20150258215A1

公开(公告)日：2015-09-17

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

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 (XLM™). 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（XLM TM）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：US20140249211A1

公开(公告)日：2014-09-04

申请号：US14194186

申请日：2014-02-28

Applicant: Wake Forest University Health Sciences ,  President and Fellows of Harvard College ,  Genethon

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

IPC: A61K48/00

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：US12178856B2

公开(公告)日：2024-12-31

申请号：US16935437

申请日：2020-07-22

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

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

IPC: A61K38/46 ,  A61K48/00 ,  C12N7/00 ,  C12N9/16

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.

公开(公告)号：US20240067942A1

公开(公告)日：2024-02-29

申请号：US18266282

申请日：2021-12-09

Applicant: GENETHON ,  INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE) ,  UNIVERSITE D'EVRY VAL D'ESSONNE ,  UNIVERSITE PARIS-SACLAY

Inventor： MARIO AMENDOLA ,  MARINE LAURENT ,  GIULIA PAVANI

IPC: C12N9/20 ,  A61P3/00 ,  C12N5/0789 ,  C12N15/86

CPC classification number: C12N9/20 ,  A61P3/00 ,  C12N5/0647 ,  C12N15/86 ,  C12N2710/10041 ,  C12Y301/01013

Abstract: The present invention relates to variants of lysosomal acid lipase (LAL) and uses thereof.

公开(公告)号：US20230374547A1

公开(公告)日：2023-11-23

申请号：US18363453

申请日：2023-08-01

Applicant: GENETHON ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

Inventor： Martine Barkats

IPC: C12N15/86 ,  A61K48/00 ,  A61P25/00

CPC classification number: C12N15/86 ,  A61K48/0075 ,  A61P25/00 ,  C12N2750/14143

Abstract: The present invention relates to compositions and methods for the delivery of therapeutic proteins to the CNS using recombinant AAV vectors. More specifically, the invention relates to compositions and methods for delivering proteins into the cerebrospinal fluid of mammalian subjects through peripheral administration of AAV vectors. The invention may be used to treat various disorders of the central nervous system, including degenerative diseases and motor neuron diseases.

公开(公告)号：US20230277686A1

公开(公告)日：2023-09-07

申请号：US18004372

申请日：2021-07-09

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

Inventor： William LOSTAL ,  Isabelle RICHARD

IPC: A61K48/00 ,  C12N15/86 ,  C12N9/64 ,  C07K14/47 ,  A61P21/00

CPC classification number: A61K48/0058 ,  C12N15/86 ,  C12N9/6472 ,  C12Y304/22054 ,  C07K14/4708 ,  C07K14/47 ,  C07K14/471 ,  A61P21/00 ,  C12N2750/14143 ,  C12N2820/007 ,  C07K2319/00

Abstract: The present invention concerns a novel short promoter characterized by a high activity in the skeletal muscles and a low activity in the heart. It then constitutes a valuable candidate especially for driving the expression of transgenes encoding proteins useful for the treatment of muscular dystrophies.

公开(公告)号：US20230270885A2

公开(公告)日：2023-08-31

申请号：US17753768

申请日：2020-09-18

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

Inventor： Evelyne GICQUEL ,  Isabelle RICHARD

IPC: A61K48/00 ,  A61K9/00 ,  A61P21/00

CPC classification number: A61K48/0058 ,  A61K48/0008 ,  A61K9/0019 ,  A61P21/00

Abstract: The present invention concerns an expression system for systemic administration comprising a sequence encoding a FKRP protein, and:



a promoter sequence allowing the expression at a therapeutically acceptable level of FKRP in the skeletal muscles and a target sequence of an miRNA expressed in the heart; or
a promoter sequence allowing the expression at a therapeutically acceptable level of FKRP in the skeletal muscles and presenting a promoter activity at a toxically acceptable level in the heart;

and its use for the treatment of various diseases linked to FKRP deficiencies.