POTENTIATOR-CORRECTOR COMBINATIONS USEFUL IN THE TREATMENT OF CYSTIC FIBROSIS

摘要

A combination therapy including a modulator of the function (potentiator) of cystic fibrosis transmembrane conductance regulator (CFTR) protein, and one or two modulator(s) of the cellular processing and/or localization molecule (correctors) is provided in a method for treating cystic fibrosis in a subject having a mutation located between the amino acid residues 1164-1480 of full length wild-type CFTR.

主权项

1. A method of treatment of cystic fibrosis in a subject comprising the steps of:
a) analyzing the sequence of cystic fibrosis transmembrane conductance regulator (CFTR) protein from the subject for the presence of a premature termination codon (PTC) or a nonsense mutation, b) identifying a subject having a mutation located between the amino acid residues 1164-1480 of SEQ ID NO: 1, and c) administering a combination comprising:
i. a modulator of the function (P potentiator) of cystic fibrosis transmembrane conductance regulator (CFTR) protein,ii. a modulator of the cellular processing and/or localization (C corrector), wherein said C corrector is not a read-through corrector, wherein said corrector is not acting through the membrane spanning domain 1 (MSD1) of CFTR,and wherein said combination does not comprise a read-through agent