Hybrid regulatory elements

A transcriptional regulatory element and neuron technology, applied in the field of hybrid promoters, can solve problems such as blockage, prevention of therapeutic effects, and limited efficacy

Pending Publication Date: 2020-11-06
GENETHON +4
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Although a life-saving treatment for IOPD subjects, ERT has limited efficacy in the CNS and muscle groups where uptake of rhGAA is difficult
In addition, ERT is blocked by the immune response induced against the therapeutic product (rhGAA), which prevents the therapeutic effect
Similar to ERT, in clinical trials of Pompe disease (Corti et al., Hum GeneTher Clin Dev. 2017Dec;28(4):208-218) and in preclinical studies in mouse models of the disease, AAV Gene therapy faces the same limitations

Method used

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Experimental program
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Embodiment Construction

[0254] Materials and methods

[0255] GAA expression cassette and AAV vector

[0256] The GAA transgene expression cassette used in this study contained a codon-optimized human GAA (hGAA) coding sequence [Puzzo & Colella et al., Sci Transl Med. 2017 Nov 29; 9(418)]. Codon optimization was performed using a commercial algorithm (Thermo Fisher Scientific) [Puzzo & Colella et al., Sci Transl Med. 2017 Nov 29; 9(418)]. There are two types of hGAA transgenes used: 1. hGAA, which encodes native hGAA protein (hGAA); or 2. sec-hGAA, which encodes an engineered highly secretable GAA with heterologous signal peptide and propeptide Deletion of 8 amino acids (sp7-Δ8-hGAAco, abbreviated as sec-hGAA in the text) [Puzzo & Colella et al., Sci Transl Med. 2017 Nov 29; 9(418)]. Cloning the transgene sequence into the AAV vector backbone, between apolipoprotein E (hepatocyte control region enhancer) and human α1-antitrypsin (hAAT) promoter, SPc5.12 promoter or CMV enhancer / chicken β - under...

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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.

Description

technical field [0001] The present invention relates to hybrid transcriptional regulatory elements, in particular hybrid promoters, that drive gene expression through at least two transcriptional regulatory elements with different tissue selectivities, e.g. in a tissue-selective manner in different tissues Designed as a fusion of two promoters that drive expression. Background technique [0002] Gene therapy has the potential to provide sustained therapeutic correction of genetic diseases and is currently being tested in a number of clinical trials. However, insufficient expression of the transgene in the desired target tissue and immunity against the transgene remain important obstacles to successful gene therapy for many diseases. This is especially important for the treatment of diseases caused by mutations in genes that are expressed ubiquitously or in multiple tissues of the body, such as liver, muscle and the central nervous system (CNS). Examples of these diseases i...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/63C12N15/85C12N15/86C12N15/864
CPCC12N15/63C12N2750/14143C12N15/86A01K67/0276A01K2217/075A01K2227/105A01K2267/0306C12N2830/008A61K48/0058C12N9/2402C12Y302/0102
Inventor 费德里克·敏果兹帕斯夸利纳·科莱拉
Owner GENETHON
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