公开(公告)号：US20230338369A1

公开(公告)日：2023-10-26

申请号：US17789128

申请日：2020-12-26

Applicant: Centre d'Etude des Cellules Souches (CECS) ,  INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE ,  Genethon ,  UNIVERSITE D'EVRY-VAL-D'ESSONNE

Inventor： Lucile HOCH ,  Xavier NISSAN ,  Isabelle RICHARD

IPC: A61K31/4965 ,  A61K38/06 ,  A61K31/5355 ,  A61K31/167 ,  A61K31/18 ,  A61K31/422 ,  A61K45/06

CPC classification number: A61K31/4965 ,  A61K38/06 ,  A61K31/5355 ,  A61K31/167 ,  A61K31/18 ,  A61K31/422 ,  A61K45/06

Abstract: The present invention relates to the combination of a proteasome inhibitor and a histone deacetylase (HDAC) inhibitor and its use for the treatment of a genetic disease linked to a conformational disorder of at least one protein, said disorder causing the proteasome degradation of the protein.

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：US20230321277A1

公开(公告)日：2023-10-12

申请号：US18177446

申请日：2023-03-02

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 ,  William LOSTAL

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

CPC classification number: A61K48/005 ,  A61P21/00 ,  C07K14/4707 ,  C12N15/86 ,  A61K38/00

Abstract: The present invention concerns synthetic polynucleotides encoding a human fukutin-related protein (FKRP) wherein the synthetic polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). The synthetic 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：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：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：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：US20210059999A1

公开(公告)日：2021-03-04

申请号：US16960503

申请日：2019-01-10

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

Inventor： Isabelle RICHARD ,  Dorianna SANDONA

IPC: A61K31/47 ,  A61K31/427 ,  A61P21/00

Abstract: Sarcoglycanopathies are autosomal recessive diseases caused by mutations in the one of the genes coding for any sarcoglycans (SG). The inventors previously showed that the application of small molecules developed to rescue ΔF508-CFTR trafficking, and known as CFTR correctors, improved the maturation of several α-sarcoglycan mutants that were consequently rescued at the plasma membrane (WO 014086687). Now, the inventors show that some specific CFTR correctors provide additive and even synergic effect when administered in combination.

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.