公开(公告)号：US11499154B2

公开(公告)日：2022-11-15

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 ,  A61P25/02 ,  A61K31/712 ,  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：US20220331408A1

公开(公告)日：2022-10-20

申请号：US17625440

申请日：2020-07-09

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

Inventor： Federico MINGOZZI ,  Giuseppe RONZITTI ,  Fanny COLLAUD

IPC: A61K38/47 ,  A61K31/44 ,  A61K31/137 ,  A61P3/00

Abstract: The invention relates to a kit of parts comprising (i) pharmacological chaperones or a pharmaceutically acceptable salt thereof and (ii) a therapeutic acid-alpha glucosidase (GAA) polypeptide or a nucleic acid molecule encoding a therapeutic GAA polypeptide, wherein said pharmacological chaperones are 1-deoxynojirimycin (DNJ) or a derivative thereof and ambroxol (ABX) or a derivative thereof.

公开(公告)号：US11466298B2

公开(公告)日：2022-10-11

申请号：US16615427

申请日：2018-05-22

Applicant: COMMISSARIAT A L'ENERGIE ATOMIQUE ET AUX ENERGIES ALTERNATIVES ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE ,  UNIVERSITE CLERMONT AUVERGNE ,  UNIVERSITE D'EVRY VAL D'ESSONNE

Inventor： Véronique De Berardinis ,  Marcel Salanoubat ,  Marielle Lemaire ,  Christine Guerard-Helaine

IPC: C12P9/00 ,  C07F9/09 ,  C12P7/26 ,  C07H1/02 ,  C07H3/02 ,  C07H11/04

Abstract: The present invention relates to a method for preparing phosphorylated keto polyols by biocatalysis and uses thereof.

公开(公告)号：US20220228167A1

公开(公告)日：2022-07-21

申请号：US17600715

申请日：2019-10-04

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

Inventor： Giuseppe RONZITTI ,  Patrice VIDAL ,  Federico MINGOZZI

IPC: C12N15/86 ,  A61P25/28 ,  C07K14/075 ,  C12N15/11 ,  C12N9/22

Abstract: The invention relates to a recombinant adeno-associated virus (AAV) capsid protein, which is a peptide-modified hybrid between AAV serotype 9 (AAV9) and AAV serotype 74 (AAVrh74) capsid proteins comprising at least one copy of a peptide comprising the RGD motif, wherein said recombinant peptide-modified hybrid AAV capsid protein has a further reduced liver tropism and an increased muscle transduction compared to the recombinant hybrid AAV capsid protein not having said peptide. The invention relates also to the derived peptide-modified hybrid AAV serotype vector particles packaging a gene of interest and their use in gene therapy, in particular for treating neuromuscular genetic diseases, in particular muscular genetic diseases.

公开(公告)号：US20210292724A1

公开(公告)日：2021-09-23

申请号：US17265528

申请日：2019-08-06

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

Inventor： GIUSEPPE RONZITTI ,  PATRICE VIDAL ,  FEDERICO MINGOZZI

IPC: C12N9/44 ,  C12N15/86 ,  C12N9/10

Abstract: The present invention relates to a mini-GDE for the treatment of glycogen storage disease III.

公开(公告)号：US11104897B2

公开(公告)日：2021-08-31

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: C12N15/113 ,  A61K48/00 ,  C12N15/11 ,  C12N5/10 ,  C12N15/10

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：US20200208181A1

公开(公告)日：2020-07-02

申请号：US16615427

申请日：2018-05-22

Applicant: COMMISSARIAT A L'ENERGIE ATOMIQUE ET AUX ENERGIES ALTERNATIVES ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE ,  UNIVERSITE CLERMONT AUVERGNE ,  UNIVERSITE D'EVRY VAL D'ESSONNE

Inventor： VÉRONIQUE DE BERARDINIS ,  MARCEL SALANOUBAT ,  MARIELLE LEMAIRE ,  CHRISTINE GUERARD-HELAINE

IPC: C12P9/00 ,  C07F9/09 ,  C07H1/02 ,  C07H3/02 ,  C07H11/04

Abstract: The present invention relates to a method for preparing phosphorylated keto polyols by biocatalysis and uses thereof.

公开(公告)号：US20190300902A1

公开(公告)日：2019-10-03

申请号：US16095098

申请日：2017-04-21

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

Inventor： Anne GALY

IPC: C12N15/86 ,  A61K35/76 ,  C12N5/0781 ,  C07K14/005

Abstract: The present invention relates to a method for obtaining stable pseudotyped lentiviral particles including a heterologous gene of interest, comprising the following steps: a) transfecting at least one plasmid in appropriate cell lines, wherein said at least one plasmid comprises the gene of interest, the rev. gag and pol genes, and a sequence coding for an ERV syncytin, wherein the rev, gag and pol genes are retroviral genes; b) incubating the transfected cells obtained in a), so that they produce the stable pseudotyped lentiviral particles in the supernatant; and c) harvesting and concentrating the stable lentiviral particles obtained in b). The present invention also relates to a method to transduce immune cells using lentiviral vectors pseudotyped with an ERV syncytin glycoprotein. The method can be performed on non-stimulated blood cells or on cells stimulated briefly with IL7, and the cells can be expanded. The stable pseudotyped lentiviral particles obtained are particularly useful in gene therapy.

公开(公告)号：US20160319344A1

公开(公告)日：2016-11-03

申请号：US15106067

申请日：2014-12-19

Applicant: CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS) ,  ECOLE NORMALE SUPERIEURE ,  UNIVERSITE D'EVRY VAL D'ESSONNE

Inventor： Vincent CROQUETTE ,  Maria MANOSAS ,  Jerome MATHE ,  David BENSIMON ,  Jean-Francois ALLEMAND

IPC: C12Q1/68 ,  G01N27/447

CPC classification number: C12Q1/6869 ,  G01N27/4473 ,  G01N27/44791 ,  C12Q2521/513 ,  C12Q2565/631

Abstract: The present invention relates to a system of nanopore sequencing using nucleic-acid binding proteins wherein the activity of the said protein and the passage of the sequenced nucleic acid molecule through the nanopore are coordinated. In particular, the present invention enables an easy synchronization of nanopore capture with polynucleotide unwinding, which in turn affords an easy way to repeat the whole process of capture and nucleotide characterization.

Abstract translation: 本发明涉及使用核酸结合蛋白的纳米孔测序系统，其中所述蛋白质的活性和测序的核酸分子通过纳米孔的通过被协调。 特别地，本发明能够使纳米孔捕获与多核苷酸展开方便地同步，这又提供了重复捕获和核苷酸表征的整个过程的简单方法。

公开(公告)号：US20240350670A1

公开(公告)日：2024-10-24

申请号：US18294577

申请日：2022-08-04

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

Inventor： GIUSEPPE RONZITTI ,  PAULINE VIDAL

IPC: A61K48/00 ,  C12N15/86

CPC classification number: A61K48/0058 ,  C12N15/86 ,  C12N2750/14143 ,  C12N2830/008

Abstract: The present invention relates to novel hybrid promoters. The invention further relates to expression cassettes and vectors containing said hybrid promoters. Also disclosed herein are methods implementing these hybrid promoters, in particular methods of gene therapy.