NDLI: Managing the underlying cause of cystic fibrosis: a future role for potentiators and correctors.

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Managing the underlying cause of cystic fibrosis: a future role for potentiators and correctors.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Galietta, Luis J. V.
Description	Author Affiliation: Galietta LJ ( Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy, galietta@unige.it.)
Abstract	Cystic fibrosis (CF), a severe genetic disease, is caused by mutations that alter the structure and function of CFTR, a plasma membrane channel permeable to chloride and bicarbonate. Defective anion transport in CF irreversibly damages the lungs, pancreas, liver, and other organs. CF mutations cause loss of CFTR function in multiple ways. In particular, class 3 mutations such as p.Gly551Asp strongly decrease the time spent by CFTR in the open state (gating defect). Instead, class 2 mutations impair the maturation of CFTR protein and its transport from the endoplasmic reticulum to the plasma membrane (trafficking defect). The deletion of phenylalanine 508 (p.Phe508del), the most frequent mutation among CF patients (70-90 %), destabilizes the CFTR protein, thus causing both a trafficking and a gating defect. These two defects can be overcome with drug-like molecules generically called correctors and potentiators, respectively. The potentiator Kalydeco™ (also known as Ivacaftor or VX-770), developed by Vertex Pharmaceuticals, has been recently approved by the US FDA and the European Medicines Agency (EMA) for the treatment of CF patients carrying at least one CFTR allele with the p.Gly551Asp mutation (2-5 % of all patients). In contrast, the corrector VX-809, which significantly improves p.Phe508del-CFTR trafficking in vitro, is still under study in clinical trials. Because of multiple defects caused by the p.Phe508del mutation, it is probable that rescue of the mutant protein will require combined treatment with correctors having different mechanisms of action. This review evaluates the status of experimental and clinical research in pharmacotherapy for the CF basic defect.
File Format	HTM / HTML
ISSN	11745878
Issue Number	5
Volume Number	15
e-ISSN	11792019
Journal	Pediatric Drugs
Language	English
Publisher	Springer
Publisher Date	2013-10-01
Publisher Place	Switzerland
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Drug Therapy Discipline Pediatrics Aminophenols Therapeutic Use Aminopyridines Benzodioxoles Cystic Fibrosis Therapy Quinolones Clinical Trials As Topic Genetics Metabolism Cystic Fibrosis Transmembrane Conductance Regulator Drug Therapy, Combination Humans Molecular Targeted Therapy Mutation Journal Article Review
Content Type	Text
Resource Type	Article
Subject	Pharmacology (medical) Pediatrics, Perinatology and Child Health

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