ENSCP - CHIMIE PARIS TECH - ECOLE NATIONALE SUPERIEURE;INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE;CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (CNRS);UNIVERSITE PARIS DESCARTES;GENETHON
发明人:
Jean-Michel Rozet,Antoine Kichler,Isabelle Perrault,Josseline Kaplan,Xavier Gerard,Daniel Scherman,M. Arnold Munnich
申请号：
US16807919
公开号：
US20200291402A1
申请日:
2020.03.03
申请国别(地区):
US
年份:
2020
代理人:
摘要：
The present invention relates to a method for treating a Leber congenital amaurosis in a patient harbouring the mutation c.2991+1655 A>；G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c. 2991+1655 A>；G CEP290 mRNA.
