PTC124 AS AN ORAL TREATMENT FOR NONSENSE-MUTATION-MEDIATED CYSTIC FIBROSIS

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study is a Phase II, multi-site, open-label, dose-ranging, efficacy, safety, and PK study of PTC124 in subjects aged greater than or equal to 18 years with nonsense-mutation-mediated Cystic Fibrosis (CF). CF is caused by an abnormality in the gene that carries the message for making the CF transmembrane regulator (CFTR) protein. Although there are several reasons why the CFTR protein may be abnormal, sometimes the abnormality leads to a defective CFTR protein which is called a premature stop (also called a nonsense mutation) in the gene for the CFTR protein. Because of this nonsense mutation, the CFTR protein made in the cells of the body (for example, in the cells of the airways, lungs, or bowel) is abnormal and does not work properly. This study involves an investigational drug called PTC124. The drug has the potential to overcome the genetic defect in patients with nonsense mutations as the basis for cystic fibrosis and other genetic disorders. Studies in animals with a nonsense mutation indicate that PTC124 may partially restore the activity of the CFTR protein. The main purpose of this study is to understand whether PTC124 can safely be given to humans and whether it will increase production of active CFTR protein in the person's body.