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 people living with cystic fibrosis and their families face complicated issues related to getting the care they need. Cystic Fibrosis Foundation Compass makes sure that no one has to do it alone.
CF Foundation Compass is a service that helps people with CF and their families with navigating insurance options, connecting to legal information and experts, finding available financial resources, and tackling other life issues.
CF care team members are paramount in providing highly specialized care to people living with CF. CF Foundation Compass can help by serving as a strategic ally for care teams, so team members can focus on their patients’ care.
CF Foundation Compass can help you navigate insurance, financial, legal, and other issues you are facing. Use this online form to start your conversation with a Compass case manager today.
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.
The Cystic Fibrosis Foundation is aggressively pursuing potential treatments for people with CF who have nonsense and rare mutations who will not benefit from drugs known as modulators, which correct the malfunctioning cystic fibrosis transmembrane conductance regulator (CFTR) protein.
About 10 percent of people with cystic fibrosis in the U.S. have two nonsense and rare mutations. Of those, it is anticipated that about 3 percent of these individuals have mutations that may respond to CFTR modulators that correct the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
Through a process called “theratyping,” the Foundation is supporting lab testing to identify the mutations that respond to currently approved CFTR modulators. If any of the tests show positive results, the Foundation will share this with the drug's manufacturer.
Around 7 percent of people with CF have a combination of two nonsense and other rare mutations that do not produce CFTR protein. Because these individuals do not produce CFTR protein, they cannot benefit from CFTR modulators. They will need different therapies to fix the underlying cause of their disease.
The Cystic Fibrosis Foundation is funding many scientific approaches to develop new treatments for this population through Path to a Cure, an ambitious research agenda to accelerate treatments and drug development for the underlying cause of the disease and ultimately to deliver a cure. These approaches include developing treatments that override premature stop mutations, as well as therapies that repair or replace the CFTR-encoded messenger ribonucleic acid (mRNA) or deoxyribonucleic acid (DNA) that is used as a template to create the CFTR protein.
Nonsense mutations (also known as “x” or “stop” mutations) cause the production of the CFTR protein to stop prematurely. This leads to a shortened, non-functional protein that the cell recognizes as defective and destroys.
Work is being done to screen for compounds that could enable the protein-making machinery of the cell to override premature stop signals so that a full-length protein can be made. These compounds would be known as readthrough agents because they could “read through” the premature stop signals.
Watch this animation to see how nonsense mutations might be corrected to make normal CFTR protein.
Nonsense mutations also shorten the amount of time the mRNA that codes for the CFTR protein lasts in the cell, thereby decreasing the amount of protein that can be made. Therefore, we are also investigating ways to selectively stabilize mRNA so that it does not degrade as fast.
The nonprofit research organization Southern Research, in collaboration with the University of Alabama at Birmingham and the CF Foundation, has used a sophisticated screening process to identify compounds in its chemical library that promote readthrough and stabilize mRNA. The CF Foundation, which started the project in 2015, has awarded it up to $9.2 million over five years.
In May 2018, the Foundation awarded Icagen Inc. up to $11 million for a multi-year drug discovery program to identify compounds in its chemical library as potential readthrough agents. Icagen also will use computer modeling to simulate how millions of drug candidates might work to suppress the nonsense mutations in the CFTR gene. The company plans to use the computer modeling process -- a method intended to speed up drug discovery -- to identify and develop “families of molecules” that are suitable to be developed into drugs.
In addition, the CF Foundation Therapeutics Lab has developed its own screening process and collection of cells with different CF-causing mutations to identify compounds that might be worth developing into drugs. So far, the lab has screened nearly 200,000 compounds to identify those that may work on CFTR nonsense mutations and warrant further development.
The lab's scientists are also spearheading an initiative to collect and grow cells from people with CF with nonsense mutations to increase the diversity of the lab's cell collection. These cells will be critical for screening studies to identify new drugs and other potential treatment options. These cell lines will be made available to companies and CF scientists to advance research in this area. The Foundation has been collecting these cells at sites around the U.S. as part of a study called RARE.
Watch Emily Kramer-Golinkoff, who has two nonsense mutations in her CFTR gene, speak about the importance of the RARE clinical trial with the study sponsor, George M. Solomon, M.D., an assistant professor of medicine and the director of the adult CF program at the University of Alabama-Birmingham.
Ribonucleic acid (RNA) therapy is another potential treatment for those with rare and nonsense mutations that could also benefit everyone with CF regardless of their mutation.
The Foundation is pursuing two different RNA therapy approaches. The first approach is to deliver normal CFTR mRNA to the cells that need to make the CFTR protein. One mRNA delivery program from Translate Bio began enrolling a Phase 1 clinical trial in 2018. The trial, which is testing the safety of the drug, won't be complete until the end of 2019 or early 2020.
Watch this video to see how this approach might work.
The second approach involves transfer RNA (tRNA), a key component in the cell's ability to translate DNA into a protein. A company supported by the Foundation is exploring the delivery of a suppressor tRNA that would allow the cell to read through premature stop signals to make full-length CFTR proteins.
Two strategies for restoring CFTR activity in people with rare or nonsense mutations -- which could benefit everyone with CF regardless of their mutations -- are gene editing and gene therapy. These strategies involve repair or replacement of the DNA.
Gene editing uses the cell's own DNA repair system to correct the mutation in the cell's DNA. Gene therapy is a technique that would supply normal CFTR DNA to cells. The Foundation recently expanded funding up to $4.5 million to Talee Bio Inc. to develop methods for delivering potential gene therapy treatments to the lungs.
Although gene editing and gene therapy are promising, it will be many years before this type of technology can be applied to cystic fibrosis. Learn more about the most recent research the Foundation is funding on gene editing and gene therapy.
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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