Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease.
CF is a rare genetic disease found in about 30,000 people in the U.S. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make informed decisions about your health care.
If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Raising a child with cystic fibrosis can bring up many questions because CF affects many aspects of your child’s life. Here you’ll find resources to help you manage your child’s daily needs and find the best possible CF care.
Living with cystic fibrosis comes with many challenges, including medical, social, and financial. By learning more about how you can manage your disease every day, you can ultimately help find a balance between your busy lifestyle and your CF care.
People with CF are living longer, healthier lives than ever before. As an adult with CF, you may reach key milestones you might not have considered. Planning for these life events requires careful thought as you make decisions that may impact your life.
People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options.
Cystic Fibrosis Foundation-accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
We provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF.
The Cystic Fibrosis Foundation provides standard care guidelines based on the latest research, medical evidence, and consultation with experts on best practices.
As a clinician, you’re critical in helping people with CF maintain their quality of life. We’re committed to helping you partner with patients and their families by providing resources you can use to improve and continue to provide high-quality care.
As part of the Cystic Fibrosis Foundation's mission to help improve the lives of people living with cystic fibrosis, the PSDC initiative taps the CF community to inform key efforts to support the management of daily care.
Your cystic fibrosis care team includes a group of CF health care professionals who partner with you to provide specialized, comprehensive CF care.
Many cystic fibrosis patients and families face complicated issues related to getting the care they need. But CF Foundation Compass makes sure that no one has to do it alone.
For many people with cystic fibrosis, dealing with insurance is as much a part of living with the disease as nebulizers and vests. Many people with CF and their families face issues related to getting the care they need, but no one has to do it alone.
The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
The CF Foundation offers a number of resources for learning about clinical trials and treatments that are being developed to improve the treatment of cystic fibrosis.
Our understanding of CF continues to evolve as scientists study what causes the disease and how it affects the body. These insights drive the development of new and better treatments and bring us one step closer to a cure.
Researchers, supported by the CF Foundation, have made tremendous advances to improve the health and quality of life of people with CF. We are committed to providing the tools and resources you need to continuously build upon this work.
Drugs that target the underlying defect in the cystic fibrosis transmembrane conductance regulator (CFTR) protein are called CFTR modulators. The three main types of modulators are potentiators, correctors, and amplifiers.
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affect the production of the CFTR protein. When the CFTR protein is not made correctly, it affects the balance of salt and fluids inside and outside of the cell. This imbalance leads to thick, sticky mucus in the lungs, pancreas, and other organs.
The Cystic Fibrosis Foundation supports the development of drugs that target specific defects in the CFTR protein. As a group, these drugs are called modulators because they are intended to modulate the function of the CFTR protein so that it can serve its primary function: to create a channel for chloride (a component of salt) to flow across the cell surface.
When proper chloride flow is reestablished, mucus becomes rehydrated inside the lungs and other organs. Although modulators can't yet completely restore proper chloride flow, they can improve the flow enough to relieve symptoms for people with CF.
There are three main types of CFTR modulators:
The first type of CFTR modulator is called a “potentiator.” Potentiators help chloride flow through the CFTR protein channel at the cell surface. The CFTR protein is shaped like a tunnel that can be closed by a gate. Potentiators hold the gate open so chloride can flow through.
The drug ivacaftor (Kalydeco®) is a potentiator. This drug can help patients with gating and conduction mutations in CFTR. It also works on residual function and splice mutations where an insufficient amount of normal protein is present. In all of these mutations, some CFTR protein reaches the surface of the cell. However, either not enough protein reaches the cell surface, or the protein does not allow enough chloride to flow through. By holding the gate on the CFTR protein open, potentiators allow more chloride to flow through and reduce the symptoms of CF.
The next type of CFTR modulator is called a “corrector.” Correctors help the CFTR protein to form the right 3-D shape so that it is able to move -- or traffic -- to the cell surface.
Almost half of people with CF have two copies of the F508del mutation, which prevents the CFTR protein from forming the right shape. The corrector drugs lumacaftor and tezacaftor help the CFTR protein to form the right shape, traffic to the cell surface, and stay there longer. But, even with lumacaftor and tezacaftor, only about a third of the CFTR protein reaches the cell surface, so by itself it can't reduce the symptoms of CF.
Additionally, the proteins that do reach the cell surface do not open sufficiently to allow chloride to pass out of the cell. But, if a corrector is used in combination with a potentiator -- such as ivacaftor -- to hold the gate on the CFTR protein open, enough chloride can then flow to reduce the symptoms of CF. The combinations of lumacaftor/ivacaftor (Orkambi®) and tezacaftor/ivacaftor (Symdeko®) are therefore used to treat people with two copies of the F508del mutation. (Tezacaftor/ivacaftor also can be used to treat people with a single copy of one of 26 specified mutations --regardless of their other mutation.)
Watch this video to learn more about how correctors and potentiators work.
The last type of CFTR modulator is called an “amplifier.” Amplifiers increase the amount of CFTR protein that the cell makes. Many CFTR mutations produce insufficient CFTR protein. If the cell made more CFTR protein, potentiators and correctors would be able to allow even more chloride to flow across the cell membrane. Amplifiers, which are being developed and tested, are not yet available.
Ivacaftor and lumacaftor are sometimes called “first-generation modulators” because they were the first modulators approved to treat people with CF. Tezacaftor, approved in Feruary 2018, is also considered a first-generation modulator.
“Next-generation” modulators are new and potentially more effective CFTR modulators. The next-generation CFTR correctors currently in clinical trials target different problems caused by the F508del mutation to further improve CFTR folding and increase the amount of CFTR trafficked to the cell surface. The goal of next-generation therapies, which will likely be part of a triple combination therapy, is to develop treatments that benefit more people, including individuals with a single F508del mutation.
Individually, each of the three drugs (which will likely first be composed of ivacaftor, tezacaftor, and a next-generation modulator) in a triple combination therapy addresses a different aspect of the defective CFTR protein. When used in combination, the results may be better than using one or two of the drugs alone. Already, several next-generation modulators in development have the potential to be significantly more effective than current FDA-approved modulators.
Next-generation modulators may also benefit more people with CF than first-generation modulators. The first-generation drug combination lumacaftor/ivacaftor can only help people with two copies of the F508del mutation, or about 50 percent of the people with CF. But, early clinical trial results suggest that several of the next-generation modulators could benefit people with CF who have only one copy of the F508del mutation. Because nearly 90 percent of the CF population has one or two copies of the F508del mutation, next-generation modulators would enable a much larger number of people with CF to have a modulator treatment.
Reference to any specific product, process, or service does not necessarily constitute or imply its endorsement, recommendation, or favoring by the Cystic Fibrosis Foundation. The appearance of external hyperlinks does not constitute endorsement by the Cystic Fibrosis Foundation of the linked websites, or information, products, or services contained therein.
Information contained on this site does not cover all possible uses, actions, precautions, side effects, or interactions. This site is not intended as a substitute for treatment advice from a medical professional. Consult your doctor before making any changes to your treatment.
FDA-approved drug information is available at dailymed.nlm.nih.gov/dailymed.
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