Research and Pipeline
Vertex is focused on discovering, developing and commercializing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.
These studies are investigating treatments or outcomes that have not all received approval from a health authority. The information presented is not intended to convey conclusions of safety or efficacy. There is no guarantee that the outcome of these studies will result in approval by a health authority.
What is cystic fibrosis? Cystic fibrosis (CF) is a rare, chronic and life-limiting genetic disease. It is a progressive, multi-system disease that affects the lungs, liver, gastrointestinal tract, pancreas, sinuses, sweat glands and reproductive tract. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and inflammation, resulting in progressive lung damage in many people and eventually leads to death. Other long-term complications can include malabsorption and failure to thrive due to pancreas disease, diabetes, liver disease, bone disease or osteoporosis, depression and anxiety. The median age of death is in the early 30s.
People with CF require a combination of treatments that address problems in their lungs, digestive system and other parts of their body. They are living longer as a result of earlier diagnosis through newborn screening and improved care. However, there is still a significant burden for people with this disease and their families associated with treatment and regular monitoring (often through regular visits to a hospital or CF care center).
How is CF diagnosed? CF is usually diagnosed through newborn screening programs or during the first few years of life. Many newborns are screened with a blood test (heel prick) taken soon after a baby is born. The diagnosis is confirmed with a sweat test. Genetic testing is performed to identify the mutations.
What is the underlying cause of disease? CF is caused by a mutation in the CFTR gene, which results in a defective and/or missing CFTR protein. Children must inherit two defective CFTR genes — one from each parent — to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, lead to CF by creating defective and/or too few CFTR proteins at the cell surface. The defective or missing CFTR protein results in poor flow of salt and water into or out of the cells in a number of organs, including the lungs. This leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive damage to the lungs.
We have spent the last 20 years doing what was once thought impossible — discovering, researching and developing medicines to treat the underlying cause of CF. When we started our work in CF, the proof-of-concept that a small molecule could correct a mis-folded or “broken” protein had not yet been tested. Vertex advanced the first of these potential medicines into clinical development in 2006. Since then, four breakthrough medicines have become available to people with CF and our research is ongoing as we continue to discover and develop medicines for potentially all people with CF.
Our portfolio approach focuses on bringing multiple compounds into clinical studies and using clinical data to inform drug discovery and development. The work starts in the lab with the design, synthesis and testing of tens of thousands of compounds. Only the most promising potential medicines then move into clinical trials. To date, ten candidate investigational CF medicines have made it to this stage. Those potential medicines have been tested in more than 10,000 people with CF across 22 countries.
We are doing research to determine what treatments may be effective for people without an F508del mutation and are investigating whether rare mutations may be responsive to our medicines. We are investing internally and with our external partners, CRISPR Therapeutics, Arbor Biotechnologies and Moderna, Inc., to develop other potential approaches to treat the 10% of people who may not respond to CFTR modulator medicines. Efforts to discover and develop therapies to potentially reach all people with CF through alternative investigational platforms, including messenger Ribonucleic Acid (mRNA), epithelial sodium channel (ENaC) inhibitors and gene editing, have been underway for years.
We are investigating medicines aimed at treating the underlying cause of cystic fibrosis. VX-561 (deutivacaftor) is an investigational once daily potentiator designed to keep CFTR proteins at the cell surface open longer to improve the flow of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.
To learn about our Phase 2 study to evaluate the efficacy and safety of VX-561 in subjects aged 18 years and older with cystic fibrosis, visit clinicaltrials.gov.
We are investigating medicines aimed at treating the underlying cause of cystic fibrosis. In people with certain types of mutations in the CFTR gene, the CFTR protein is not processed and cannot move through the cell normally. This results in little to no protein at the cell surface. VX-121 and tezacaftor are designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the CFTR protein. VX-561 (deutivacaftor) is designed to keep CFTR proteins at the cell surface open longer to improve the flow of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.
To learn about our Phase 2 study to evaluate the safety and efficacy of VX-121 combination therapy in subjects aged 18 years and older with cystic fibrosis, visit clinicaltrials.gov.