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.
Although 90-95 percent of people with cystic fibrosis are expected to benefit from CF transmembrane regulator (CFTR) modulators, 5 percent of the population will still need alternative therapies to address the underlying cause of their disease. Learn more about the research that the Cystic Fibrosis Foundation is doing to find treatments for the 5 percent of people with these rare and nonsense mutations.
December 5, 2017
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In the next five years, we expect between 90-95 percent of people with cystic fibrosis to benefit from highly effective treatments called cystic fibrosis transmembrane regulator (CFTR) modulators. These drugs correct the underlying cause of the disease by helping the defective protein function properly.
Unfortunately, about 5 percent of people with CF, because of their mutations, will never benefit solely from these medications as they do not produce any CFTR protein. Below, William Skach, M.D., senior vice president of research affairs at the Cystic Fibrosis Foundation, answers questions about the research the Foundation is funding to develop treatments for people with these types of mutations.
Q. Why is the Foundation focusing on research into mutations that prevent the production of CFTR proteins?
A. The CF Foundation is committed to ensuring that everyone with CF has an effective treatment that targets the underlying cause of their disease. We have made tremendous progress in the last few years, with CFTR modulators for nearly 60 percent of CF mutations, and we expect that number to grow significantly in the near future. However, about 5 percent of the CF population will not be able to benefit solely from modulators. That is why we are aggressively funding research to discover new treatments -- to ensure that no one is left behind and everyone benefits.
Q. Why can't this 5 percent of people benefit from CFTR modulators?
A. Every person with CF has two CFTR genes, each of which carries a mutation that decreases CFTR protein function, and, because different mutations cause different defects in the protein, CFTR modulators are only effective in people with specific mutations. If you have at least one F508del mutation, the most common mutation, we expect you to benefit from the CFTR modulators that are currently being developed because you are still able to make protein that modulators can correct.
The people with CF who won't benefit solely from modulators are those who have two rare mutations that either do not produce any CFTR protein, or produce a protein that does not respond to modulators. These rare mutations include nonsense mutations (also known as “x” or “stop” mutations) in which production of the CFTR protein stops too early. This premature stop in production results in a shortened, non-functional protein that the cell recognizes as defective and destroys. Without CFTR proteins, the modulators have nothing to correct and are therefore ineffective.
Q. What potential therapies are being researched for the 5 percent of the CF population who don't produce any CFTR protein?
A. The Foundation is using a multi-pronged strategy to develop new treatments for these individuals. First, we are working with Southern Research and the University of Alabama to find and evaluate chemical compounds that “read through” or override the premature stop signal to allow a full-length protein to be made. So far, multiple molecules have shown some positive results.
Additionally, researchers at the CF Foundation Therapeutics Lab are dedicating major efforts to identify and evaluate additional readthrough compounds to determine if they could be effective therapies for nonsense mutations. The lab recently launched an initiative to create a cell culture bank with cells from people with CF who have nonsense mutations, enabling researchers to test these compounds and develop them into drugs.
In another approach, we are investing in something called ribonucleic acid (RNA) therapies. These therapies would either repair or replace defective messenger RNA (mRNA), which carries the instructions for making proteins. RNA therapy can occur in two ways: Healthy mRNA is either added directly to cells to produce a normal CFTR protein, or the defective mRNA is repaired in the cell.
RNA therapy restores the mRNA that is used as a template to create the CFTR protein in the cell, enabling the production of healthy CFTR proteins regardless of the mutation. This means that replacing or repairing the defective mRNA using RNA therapy could potentially benefit everyone with CF. We are hopeful that in the next year there will be a clinical trial to test a new RNA therapy for cystic fibrosis.
Q. What role will gene editing play?
A. The Foundation is dedicated to finding a cure for CF -- a way of restoring the defective CFTR gene -- that would benefit everyone with CF. This can be done either by replacing the entire CFTR gene (gene therapy) or repairing the defective CFTR gene inside the cells (gene editing). In order to capitalize on recent technological advances, the CF Foundation is funding research into stem cells (the cells we would target), gene editing (correcting the gene itself), and finding effective methods to deliver gene editing tools into the cells.
Although it will likely be many years before gene editing for CF will be available, it is critical that we lay the foundation now.
Director, Research Communications, Cystic Fibrosis Foundation
Prior to her work at the Foundation, Genevieve worked at the University of Cambridge in England to promote scientific and clinical research. She holds a master’s degree in Environmental Science and Policy from Johns Hopkins University and a Bachelor of Science degree in biology from the University of Charleston. Originally from Louisiana, Genevieve now lives in Washington, D.C., with her husband and son.
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This site contains general information about cystic fibrosis, as well as personal insight from the CF community. Opinions and experiences shared by members of our community, including but not limited to people with CF and their families, belong solely to the blog post author and do not represent those of the Cystic Fibrosis Foundation, unless explicitly stated. In addition, the site is not intended as a substitute for treatment advice from a medical professional. Consult your doctor before making any changes to your treatment.
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