A prospective study to evaluate biological and clinical effects of significantly corrected CFTR function (the PROMISE Study)
What is the goal of the study?
Cystic fibrosis (CF) is a genetic disorder which alters chloride and water transport in the cells, resulting in multi-organ complications from birth which often require complex daily treatments. In the 6 ? 12 months, it is anticipated that a new triple combination drug for treatment of CF will be approved by the US FDA and will be available for approximately 90% of patients who are 12 years of age and older. These drugs modulate the CF protein to improve chloride transport and cellular function resulting in clinical improvement and will be prescribed clinically after FDA approval. The PROMISE study is designed to measure the direct and indirect effects of these CFTR modulators by collecting specimens and clinical data on a large number of patients before and after they begin treatment with the triple combination therapy. While specific biomarkers of significant interest and direct relevance to CF pathophysiology will be analyzed as part of this study, an additional important goal of the study is to collect biospecimens for a biorepository to enable future research. These samples could be used in the future to identify and validate potential biomarkers though discovery programs, such as metabolomics and proteomic approaches. This observational study will provide a coordinated approach to collection of clinical data, biospecimens, and novel outcome measures to enable current and future research. Seattle Children?s will be a site for the airway microbiology sub-study. Eligible patients, ages 12 years and older, will provide consent, and assent as applicable, for study participation with the first visit up to 30 days prior to starting clinically prescribed triple combination therapy and five additional study visits over a 24 month period for specimen and data collection. Participants at Seattle Children?s will be offered the opportunity to participate in optional procedures (chest HRCT and transient elastography) in addition to the core study and airway microbiology sub-study procedures.
Who can participate in the study?
Please contact the study team listed below to learn more.