公开(公告)号：US11596698B2

公开(公告)日：2023-03-07

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 ,  William Lostal

IPC: A61K48/00 ,  A61P21/00 ,  C07K14/47 ,  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：US20240317814A1

公开(公告)日：2024-09-26

申请号：US18735636

申请日：2024-06-06

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 ,  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：US20230277540A1

公开(公告)日：2023-09-07

申请号：US18009034

申请日：2021-06-09

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

Inventor： Isabelle Richard ,  Ariane Biquand

IPC: A61K31/519 ,  A61K31/4439 ,  A61K31/7088 ,  A61P9/00

CPC classification number: A61K31/519 ,  A61K31/4439 ,  A61K31/7088 ,  A61P9/00

Abstract: The invention relates to the treatment of dilated cardiomyopathies, in particular genetic dilated cardiomyopathies, using non-expressible inhibitors of the WNT pathway or TGF-β pathway, alone or in combination.

公开(公告)号：US20230220391A1

公开(公告)日：2023-07-13

申请号：US18009018

申请日：2021-06-09

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

Inventor： Isabelle Richard ,  Ariane Biquand

IPC: C12N15/113 ,  A61P9/04 ,  C12N15/86

CPC classification number: C12N15/113 ,  A61P9/04 ,  C12N15/86 ,  C12N2310/531 ,  C12N2310/14 ,  C12N2320/32 ,  C12N2750/14143 ,  C12N2750/14171

Abstract: The present disclosure relates to the treatment of dilated cardiomyopathies, in particular to 5 the use of an inhibitor of CILP-1.

公开(公告)号：US20180256752A1

公开(公告)日：2018-09-13

申请号：US15988728

申请日：2018-05-24

Applicant: GENETHON ,  CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

Inventor： Ana Maria Buj Bello ,  Isabelle Richard

IPC: A61K48/00 ,  C12N9/64 ,  A61K38/46 ,  A61K38/48 ,  C12N9/16 ,  C12N15/86

CPC classification number: A61K48/0066 ,  A61K38/465 ,  A61K38/4873 ,  A61K48/0058 ,  A61K48/0075 ,  C07K14/4707 ,  C12N9/16 ,  C12N9/6472 ,  C12N15/86 ,  C12N2750/14132 ,  C12N2750/14143 ,  C12N2830/008 ,  C12Y301/03048 ,  C12Y304/22054

Abstract: The present invention relates to an expression system for systemic administration comprising a sequence encoding a protein, said expression system allowing: the expression at a therapeutically acceptable level of the protein in the target tissues including skeletal muscles; and the expression at toxically acceptable level of the protein in tissues other than the target tissues, especially in the heart.