The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jan. 23, 2018
Filed:
Mar. 24, 2017
Inserm (Institut National DE LA Sante ET DE LA Recherche Medicale), Paris, FR;
Universite Paris Diderot—paris 7, Paris, FR;
Universite DE Versailles Saint-quentin-en-yvelines, Versailles, FR;
Assistance Publique-hopitaux DE Paris (Aphp), Paris, FR;
Laurent Gouya, Paris, FR;
Jean-Charles Deybach, Paris, FR;
Herve Puy, Paris, FR;
Vincent Oustric, Paris, FR;
INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE), Paris, FR;
UNIVERSITE PARIS DIDEROT—PARIS 7, Paris, FR;
UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES, Versailles, FR;
ASSISTANCE PUBLIQUE-HOPITAUX DE PARIS (APHP), Paris, FR;
Abstract
The present invention relates to methods and pharmaceutical compositions for the treatment of Erythropoietic Protoporphyria. In particular, the present invention relates to a method for increasing the amount of functional FECH in a erythroid cell carrying the hypomorphic allele IVS3 48C/T (rs2272783) in trans to a deleterious mutation in the FECH gene comprising the step of consisting of bringing the erythroid cell into contact with at least one antisense oligonucleotide (ASO) comprising the sequence as set forth by SEQ ID NO: 2 (5' gcagcctgagaaatgtttt 3′) to prevent splicing of the cryptic exon inserted into the mutant IVS3 48C/T (rs2272783) FECH mRNA.