公开(公告)号：US20220184137A1

公开(公告)日：2022-06-16

申请号：US17603220

申请日：2020-04-10

Applicant: INSERM (Institut National de la Santé et de la Recherche Médicale) ,  Université d'Evry val d'Essonne ,  Genethon

Inventor： Mario AMENDOLA ,  Giulia PAVANI

IPC: A61K35/28 ,  C12N5/0789 ,  C12N15/113 ,  C07K14/805

Abstract: The present invention relates to a genetically modified hematopoietic stem cell (HSC) comprising, in at least one α-globin gene comprised in the genome thereof, at least one transgene encoding a functional β-like globin protein, the said transgene being placed under the control of the endogenous promoter of the said at least one α-globin gene.

公开(公告)号：US11339406B2

公开(公告)日：2022-05-24

申请号：US16332379

申请日：2017-09-12

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

Inventor： Federico Mingozzi ,  Giuseppe Ronzitti

IPC: C12N9/24 ,  C12N15/90 ,  C12N15/87 ,  C12N15/86 ,  A61K35/34 ,  A61K35/407

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

公开(公告)号：US20210346519A1

公开(公告)日：2021-11-11

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

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：US20210130847A1

公开(公告)日：2021-05-06

申请号：US16604648

申请日：2018-04-11

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 ,  C12N15/113 ,  A61K45/06

Abstract: An RNA interference (RNAi) strategy is provided based on use of artificial microRNA (amiR) to reduce NKCC1 expression. In particular, a method is provided 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：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：US20210040503A1

公开(公告)日：2021-02-11

申请号：US17072065

申请日：2020-10-16

Applicant: GENETHON ,  SORBONNE UNIVERSITE

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

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

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

公开(公告)号：US20200377857A1

公开(公告)日：2020-12-03

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 ,  C12N9/22 ,  C12N15/113 ,  A61K35/28

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：US10736945B2

公开(公告)日：2020-08-11

申请号：US15856653

申请日：2017-12-28

Applicant: Wake Forest University Health Sciences ,  Genethon ,  Children's Medical Center Corporation

Inventor： Martin K. Childers ,  Alan H. Beggs ,  Ana Maria Buj Bello

IPC: A61K38/46 ,  C12N9/16 ,  A61K48/00 ,  C12N7/00

Abstract: The present invention provides compositions and methods for treating a myopathy. In certain embodiments, the invention provides compositions and methods for treating, improving muscle function, and prolonging survival in a subject with X-linked myotubular myopathy (XLMTM). The present invention provides a method comprising systemic administration of a composition that induces the increased expression of myotubularin in the muscle of a subject. The invention provides sustained regional and global increases in muscle function.

公开(公告)号：US20200002683A1

公开(公告)日：2020-01-02

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.

公开(公告)号：US20190390225A1

公开(公告)日：2019-12-26

申请号：US16332379

申请日：2017-09-12

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

Inventor： FEDERICO MINGOZZI ,  GIUSEPPE RONZITTI

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

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