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Cystic fibrosis bone disease: is the CFTR corrector C18 an option for therapy?

Year: 2014

Type: article

Abstract: Mutations in the gene encoding the chloride ion channel CFTR (cystic fibrosis transmembrane conductance regulator) result in cystic fibrosis (CF), the most common lethal autosomal recessive genetic disease, which causes a number of long-term health problems, such as bone disease. Osteoporosis and increased vertebral fracture risk associated with CF disease are becoming more important as the life expectancy of patients continues to improve. The aetiology of low bone density is multifactorial, and is most probably a combination of inadequate peak bone mass during puberty and increased bone loss in adults [1]. Body mass index, male sex, advanced pulmonary disease, malnutrition and chronic therapies are established additional risk factors for CF-related bone disease. In multiple studies with a large cohort of adolescent and adult CF patients, the incidence of osteopenia and osteoporosis ranges from 34% to 79% [1, 2]. This further translated to a 100-fold greater risk of vertebral compression, which can decrease lung function, thus accelerating the course of the disease and decreasing the patient's quality of life. CFTR corrector–potentiators may be new therapies for CF bone disease <http://ow.ly/DSgyi> The authors thank all children who participated in this study. We also acknowledge the provision of CFTR corrector VRT-534/C18 by Vertex Pharmaceuticals (Boston, MA, USA).

Source: European Respiratory Journal

DOI: 10.1183/09031936.00174014