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：US20230032826A1

公开(公告)日：2023-02-02

申请号：US17785422

申请日：2020-12-18

Applicant: GENETHON

Inventor： SERGE BRAUN ,  FLORIAN CARDON ,  YOHANN DICKX ,  MARINA GUILLET ,  SAMIA MARTIN ,  MARIE RANDOUX

IPC: C12N15/82 ,  C12N15/86

Abstract: The present invention relates to a method for producing a recombinant viral vector from hairy roots of a plant, in particular from hairy roots of a plant belonging to the Brassicaceae family. The invention also relates to a transgenic plant, a hairy root culture and a recombinant viral vector obtainable by the method of the invention.

公开(公告)号：US20220389399A1

公开(公告)日：2022-12-08

申请号：US17812460

申请日：2022-07-14

Applicant: GENETHON ,  SORBONNE UNIVERSITE ,  DUKE UNIVERSITY

Inventor： FEDERICO MINGOZZI ,  GIUSEPPE RONZITTI ,  DWIGHT D. KOEBERL ,  SANG-OH HAN

IPC: C12N9/34 ,  A61P3/00

Abstract: The present invention relates to variants of acid-alpha glucosidase and uses thereof. Said variants are sequence-optimized and/or are linked to a heterogenous signal peptide.

公开(公告)号：US20220380807A1

公开(公告)日：2022-12-01

申请号：US17861676

申请日：2022-07-11

Applicant: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE) ,  UNIVERSITÉ D'EVRY-VAL-D'ESSONNE ,  GENETHON ,  FONDAZIONE ISTITUTO ITALIANO DI TECNOLOGIA ,  FONDAZIONE TELETHON

Inventor： Federico Mingozzi ,  Giuseppe Ronzitti ,  Andrea Contestabile ,  Laura Cancedda

IPC: C12N15/86 ,  A61K45/06 ,  C12N15/113

Abstract: The invention relates to an RNA interference (RNAi) strategy based on the use of artificial microRNA (amiR) to reduce NKCC1 expression. In particular, the invention relates to a vector that achieves neuron-specific expression of specific amiR against NKCC1 by using a human Synapsin promoter to drive transgene expression.

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：US20220280655A1

公开(公告)日：2022-09-08

申请号：US17605524

申请日：2020-04-23

Applicant: INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE) ,  Assistance Publique-Hôpitaux de Paris ,  Genethon ,  Sorbonne Université ,  Universite de Paris ,  Université d'Evry-Val-d'Essonne ,  Universite Paris XIII Paris-Nord Villetaneuse

Inventor： Jessica Zucman-Rossi ,  Jean-Charles Nault ,  Tiziana La Bella ,  Giuseppe Ronzitti ,  Sandrine Imbeaud ,  Patrice Vidal

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

Abstract: Adeno-associated virus (AAV) is a defective mono-stranded DNA virus, endemic in human population (35-80%). Recurrent clonal AAV2 insertions are associated with the pathogenesis of rare human hepatocellular carcinoma (HCC) developed on normal liver. The aimed of the inventors was to characterize the natural history of AAV infection in the liver. Viral DNA was thus quantified in tumor and non-tumor liver tissues of 1461 patients. Presence of episomal form and viral mRNA expression were analyzed using a DNAse/TaqMan based assay and quantitative RT-PCR. In silico analyses using viral capture data explored viral variants and new clonal insertions. AAV DNA was detected in 21% of the patients equally distributed in 2 major viral subtypes: one similar to AAV2, the other hybrid between AAV2 and AAV13 sequences. Thus the inventors provided an integrated analysis of the wild type AAV infection in the liver with the identification of viral genotypes, molecular forms, helper virus relationship and viral integrations. These findings are important to understand wild type AAV biology and particularly relevant considering the large usage of AAV vector in liver-targeted gene therapy. Thus, the present invention relates to new adeno-associated virus (AAV) variants and uses thereof for gene therapy.

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：US11236307B2

公开(公告)日：2022-02-01

申请号：US16551787

申请日：2019-08-27

Applicant: GENETHON

Inventor： Otto-Wilhelm Merten ,  Martin Marek ,  Monique Van Oers

IPC: C12N7/00 ,  C12N15/86

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.