公开(公告)号：US20220204574A1

公开(公告)日：2022-06-30

申请号：US17593285

申请日：2020-03-25

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

Inventor： Isabelle RICHARD ,  William LOSTAL

IPC: C07K14/47 ,  C12N5/077 ,  C12N15/86 ,  A61K35/76 ,  A61P21/00

Abstract: The present invention concerns a quasidystrophin (QD) having the structure CH1CH2H1R1R2R3H2R8R9 in its N-terminal part and advantageously further comprising the R16 and R17 rod domains, as well as the dual AAV vector system which allows producing it.

公开(公告)号：US20210338837A1

公开(公告)日：2021-11-04

申请号：US16628650

申请日：2018-07-06

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

Inventor： Isabelle RICHARD ,  Evelyne GICQUEL-ZOUIDA

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

Abstract: The present invention concerns synthetic polynucleotides encoding a human fukutin-related protein (FKRP) wherein said polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). Said polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in α-dystroglycan (α-DG) glycosylation, such as LGMD2I.

公开(公告)号：US20210107948A1

公开(公告)日：2021-04-15

申请号：US16981086

申请日：2019-04-04

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

Inventor： Isabelle RICHARD ,  Evelyne GICQUEL ,  Frederico MINGOZZI ,  Giuseppe RONZITTI ,  Patrice VIDAL

IPC: C07K14/005 ,  C12N7/00 ,  C12N15/86

Abstract: The invention relates to a recombinant adeno-associated virus (AAV) capsid protein, which is a hybrid between AAV serotype 9 (AAV9) and AAV serotype 74 (AAVrh74) capsid proteins, wherein said recombinant hybrid AAV capsid protein has a reduced liver tropism compared to the parent AAV9 and AAVrh74 capsid proteins. The invention relates also to the derived hybrid AAV serotype vector particles packaging a gene of interest and their use in gene therapy, in particular for treating neuromuscular genetic diseases.

公开(公告)号：US20210095291A1

公开(公告)日：2021-04-01

申请号：US16604121

申请日：2018-04-10

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

Inventor： Ana Maria BUJ BELLO

IPC: C12N15/113 ,  A61K31/712 ,  A61P25/02 ,  A61K38/46

Abstract: The present invention concerns the use of antisense oligonucleotides (AON) capable of inhibiting expression of dynamin 2, advantageously human dynamin 2, for use in the treatment of Charcot-Marie-Tooth disease (CMT) and centronuclear myopathies (CNM).

公开(公告)号：US20200370069A1

公开(公告)日：2020-11-26

申请号：US16629339

申请日：2018-07-06

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

Inventor： ANA BUJ BELLO ,  MARTINA MARINELLO ,  SAMIA MARTIN

IPC: C12N15/86 ,  A61P25/00 ,  C07K14/47 ,  A61K38/17 ,  A61K48/00

Abstract: The present invention relates to a recombinant adeno-associated virus (rAAV) vector comprising a serotype 9 or rh10 AAV capsid, for use in a method for the treatment of spinal muscular atrophy (SMA).

公开(公告)号：US20180318447A1

公开(公告)日：2018-11-08

申请号：US15772902

申请日：2016-11-30

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

Inventor： Saliha MAJDOUL ,  David FENARD

IPC: A61K48/00 ,  C07K14/47 ,  C12N15/87

CPC classification number: A61K48/0016 ,  C07K14/47 ,  C07K14/82 ,  C07K2319/033 ,  C07K2319/10 ,  C12N15/86 ,  C12N15/87 ,  C12N2740/15043 ,  C12N2750/14143

Abstract: The present invention relates to peptides and compositions for use in improving transduction efficiency of viruses into target cells.

公开(公告)号：US20250041448A1

公开(公告)日：2025-02-06

申请号：US17603355

申请日：2020-04-20

Applicant: Genethon ,  Institut National de la Sante et de la Recherche Medicale ,  Universite d'Evry Val d'Essonne

Inventor： Giuseppe RONZITTI ,  Louisa JAUZE ,  Séverine CHARLES ,  Federico MINGOZZI

IPC: A61K48/00 ,  A61K38/18 ,  A61P7/00 ,  C12N15/86

Abstract: The invention relates to a nucleic acid construct for gene therapy of FGF-23 related hypophosphatemic diseases, in particular gene therapy directed to muscle, liver or hematopoietic tissue, more particularly liver tissue. The invention relates also to a vector comprising the nucleic acid construct, and their use for the treatment of FGF-23 related hypophosphatemic diseases, in particular XLH, by gene therapy.

公开(公告)号：US20230272433A1

公开(公告)日：2023-08-31

申请号：US18024102

申请日：2021-09-29

Applicant: Genethon ,  Universite d'Evry Val d'Essonne ,  INSERM( INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE)

Inventor： Mario Amendola ,  Simon Guiraud

IPC: C12N15/90 ,  C12N15/11 ,  C12N9/22 ,  C12N5/077

CPC classification number: C12N15/907 ,  C12N5/0658 ,  C12N9/22 ,  C12N15/11 ,  C12N2310/20 ,  C12N2800/80

Abstract: The invention relates to a composition for enhancing utrophin expression in cell by inducing mutations within a target sequence comprising a utrophin repressor binding site using a gene editing enzyme and the use thereof for the treatment of a dy-strophinopathy.

公开(公告)号：US20230265427A1

公开(公告)日：2023-08-24

申请号：US18009006

申请日：2021-06-09

Applicant: Genethon ,  Institut National de la Santé et de la Recherche Médicale ,  Universite d'Evry Val d'Essonne

Inventor： Isabelle RICHARD ,  Ariane BIQUAND

IPC: C12N15/113 ,  A61P9/00 ,  C12N15/86

CPC classification number: C12N15/113 ,  A61P9/00 ,  C12N15/86 ,  C12N2310/13 ,  C12N2310/16 ,  C12N2310/14 ,  C12N2750/14141

Abstract: The invention relates to the treatment of genetic dilated cardiomyopathies using expressible modulators of the Wnt pathway or TGF-β pathway, preferably using gene transfer.

公开(公告)号：US11661910B2

公开(公告)日：2023-05-30

申请号：US17048243

申请日：2019-04-18

Applicant: CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE ,  UNIVERSITE D'ORLEANS ,  UNIVERSITE D'EVRY-VAL D'ESSONNE

Inventor： Luc Leger ,  Vladeta Zmijanovic ,  Mohamed Sellam ,  Amer Chpoun

IPC: F02K9/97 ,  F02K1/28 ,  F02K9/82 ,  F02K1/30

CPC classification number: F02K9/97 ,  F02K1/28 ,  F02K1/30 ,  F02K9/82 ,  F05D2220/323 ,  F05D2240/128 ,  F05D2250/324 ,  F05D2250/713

Abstract: A mixing tube with multiple shapes is provided, allowing additional injection of gas in order to keep the flow detached from the second shape in an ascent phase and to bring about, in a descent phase, a controlled detachment as a result of the change of slope between the two shapes. A propulsion nozzle for an engine of a spacecraft or aircraft is provided including such a mixing tube and a method for controlling the speed transition of the propulsion gases in such a nozzle in accordance with the altitude. Also, a method is provided for vectorising the thrust in such a nozzle by radial and asymmetrical injection of gas and a control method which prevents re-attachment of the jet to the second shape of such a propulsion nozzle for an engine of a spacecraft when it is in the take-off or landing phase.