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公开(公告)号:US20220125875A1
公开(公告)日:2022-04-28
申请号:US17422737
申请日:2021-01-20
申请人: INSTITUT PASTEUR , CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS) , INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE)
发明人: Saaid SAFIEDDINE , Christine PETIT
摘要: The present inventors report here, in the DFNB9 mouse model (OTOF knock-out mice), the first proof-of-principle that cochlear delivery of a fragmented cDNA via a dual-AAV vector approach can effectively and long-lastingly correct the profound deafness phenotype of these mice when administered well after their auditory system has matured (P30). The present invention therefore concerns a vector system that allows the expression of the full-length Otoferlin polypeptide, or of a functional fragment thereof, in inner hair cells, for use for treating patients suffering from DFNB9 deafness or preventing DFNB9 deafness in patients having DFNB9 mutations, wherein said patients are patients having a developed and mature auditory system, such as new born babies, toddlers, infants, teenagers or adults.
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公开(公告)号:US20180055908A1
公开(公告)日:2018-03-01
申请号:US15551096
申请日:2016-02-19
申请人: INSTITUT PASTEUR
发明人: Christine PETIT , Paul AVAN , Sedigheh DELMAGHANI , Jean DEFOURNY , Asadollah AGHAIE , Saaid SAFIEDDINE , Alice EMPTOZ
摘要: The present invention relates to the use of gasdermin, in particular of gasdermin A, gasdermin B, gasdermin C, gasdermin D, DFNA5 or DFNB59 (or pejvakin), and more particularly pejvakin for modulating cellular redox homeostasis. A particularly preferred use of gasdermin, in particular of gasdermin A, gasdermin B, gasdermin C, gasdermin D, DFNA5 or DFNB59 (or pejvakin), and more particularly pejvakin in the context of the present invention is as an antioxidant. The present invention also concerns a virally-mediated gene therapy for restoring genetically-impaired auditory and vestibular functions in subjects suffering from an Usher syndrome. More precisely, this gene therapy takes advantage of an AAV2/8 vector expressing at least one USH1 gene product, preferably SANS.
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