公开(公告)号：US12171843B2

公开(公告)日：2024-12-24

申请号：US16968196

申请日：2019-02-07

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 ,  C12Q1/68

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.

公开(公告)号：US12037362B2

公开(公告)日：2024-07-16

申请号：US16981086

申请日：2019-04-04

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： Isabelle Richard ,  Evelyne Gicquel ,  Federico Mingozzi

IPC: C07K14/005 ,  A61K48/00 ,  A61P25/28 ,  C07K14/075 ,  C12N7/00 ,  C12N9/22 ,  C12N15/11 ,  C12N15/86

CPC classification number: C07K14/005 ,  A61P25/28 ,  C07K14/075 ,  C12N7/00 ,  C12N9/22 ,  C12N15/111 ,  C12N15/86 ,  A61K48/00 ,  C12N2310/20 ,  C12N2750/14121 ,  C12N2750/14122 ,  C12N2750/14143 ,  C12N2750/14152 ,  C12N2750/14171

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：US12023366B2

公开(公告)日：2024-07-02

申请号：US17000867

申请日：2020-08-24

Applicant: GENETHON ,  ROYAL HOLLOWAY AND BEDFORD NEW COLLEGE ,  ASSOCIATION INSTITUT DE MYOLOGIE ,  INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE ,  SORBONNE UNIVERSITE ,  CENTRE HOSPITALIER UNIVERSITAIRE DE NANTES ,  NANTES UNIVERSITE

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

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

CPC classification number: A61K38/1719 ,  A61K48/005 ,  A61K48/0058 ,  A61K48/0075 ,  C12N7/00 ,  C12N15/86 ,  C12N2750/14132 ,  C12N2750/14143 ,  C12N2750/14171 ,  C12N2840/007

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：US12012613B2

公开(公告)日：2024-06-18

申请号：US16961483

申请日：2019-01-11

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

Inventor： Mario Amendola ,  Giulia Pavani

IPC: C12N5/0789 ,  A61K35/28 ,  C12N9/22 ,  C12N15/113

CPC classification number: C12N5/0647 ,  A61K35/28 ,  C12N9/22 ,  C12N15/113 ,  C12N2310/20 ,  C12N2800/80

Abstract: The present invention relates to a genetically modified hematopoietic stem cell comprising, in at least one globin gene comprised in the genome thereof, at least one transgene encoding a therapeutic protein or a therapeutic ribonucleic acid, the said transgene being placed under the control of the endogenous promoter of the said globin gene.

公开(公告)号：US20240043867A1

公开(公告)日：2024-02-08

申请号：US18058283

申请日：2022-11-23

Applicant: GENETHON ,  SORBONNE UNIVERSITE

Inventor： FEDERICO MINGOZZI ,  GIUSEPPE RONZITTI ,  PASQUALINA COLELLA ,  FRANCESCO PUZZO

IPC: C12N15/86 ,  A61K35/34 ,  A61K35/407

CPC classification number: C12N15/86 ,  A61K35/34 ,  A61K35/407 ,  C12N2510/00 ,  C12N2750/14143 ,  C12Y302/0102

Abstract: The present invention relates to variants of acid-alpha glucosidase and uses thereof.

公开(公告)号：US20230151390A1

公开(公告)日：2023-05-18

申请号：US17996085

申请日：2021-04-14

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

Inventor： ANA BUJ BELLO ,  JÉRÔME DENARD ,  MARTINA MARINELLO

IPC: C12N15/86 ,  A61P3/00 ,  A61K38/50

CPC classification number: C12N15/86 ,  A61P3/00 ,  A61K38/50 ,  C12Y305/01023 ,  C12N2750/14143 ,  C12N2750/14171 ,  C12N2800/22 ,  C12N2830/42 ,  C12N2830/50 ,  A61K48/00

Abstract: The present invention relates to a vector comprising an ASAH1 open reading frame, for use in the treatment of acid ceramidase deficiency.

公开(公告)号：US20220370640A1

公开(公告)日：2022-11-24

申请号：US17753768

申请日：2020-09-18

Applicant: GENETHON ,  UNIVERSITE D'EVRY-VAL-D'ESSONNE

Inventor： Evelyne GICQUEL ,  Isabelle RICHARD

IPC: A61K48/00 ,  A61K9/00 ,  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.

公开(公告)号：US11421211B2

公开(公告)日：2022-08-23

申请号：US16332373

申请日：2017-09-12

Applicant: GENETHON ,  SORBONNE UNIVERSITE ,  DUKE UNIVERSITY

Inventor： Federico Mingozzi ,  Giuseppe Ronzitti ,  Dwight D. Koeberl ,  Sang-Oh Han

IPC: C12N15/86 ,  C12N9/24 ,  C12N9/26 ,  A61K38/47

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：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.