COMBINATION TREATMENT OF SARCOGLYCANOPATHIES

摘要

Sarcoglycanopathies are autosomal recessive diseases caused by mutations in the one of the genes coding for any sarcoglycans (SG). The inventors previously showed that the application of small molecules developed to rescue ?F508-CFTR trafficking, and known as CFTR correctors, improved the maturation of several a-sarcoglycan mutants that were consequently rescued at the plasma membrane (WO 014086687). Now, the inventors show that some specific CFTR correctors provide additive and even synergic effect when administered in combination.