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.
This year, theratyping, the process of matching medications with mutations, enabled more people with cystic fibrosis who have rare mutations to benefit from modulators. In the first plenary at the NACFC, we heard more about how theratyping will be used, as well as other future advances coming in CF treatment.
Katherine Tuggle, Ph.D.
November 2, 2017
How I Overcame B. cepacia’s Emotional Hold
My Mother’s Life Overshadowed CF
Looking back on it, 2017 has been an amazing year in science for cystic fibrosis not only because of the approved expansion of ivacaftor (Kalydeco®) for 28 more mutations, but also because of the advancements made in new therapies for those who don't have a treatment for the underlying defect in CF.
“We will look back at 2017 as the time when highly effective next-generation CFTR modulator therapy went from something we hoped for to something we fully expect to occur,” said Michael P. Boyle, M.D., senior vice president of therapeutics development at the Cystic Fibrosis Foundation.
Dr. Boyle covered these recent drug developments and gave us insight into the potential impact of a new technique called theratyping, the process of matching CFTR modulators to individual mutations, during the first plenary, Matching Medicines With Mutations, at the 31st annual North American Cystic Fibrosis Conference in Indianapolis. The second speaker of the plenary, Philip Thomas, Ph.D., who holds the Ruth S. Harrell Professorship in Medical Research at The University of Texas Southwestern Medical Center in Dallas, explained how theratyping will enable the lab to play a critical role in the expanded use of therapies. (Watch a recording of the full session here.)
Dr. Boyle ticked off the list of this year's achievements:
What was remarkable about the latest accomplishment is that for the 23 residual function mutations, the FDA relied partially on lab data -- essentially how cells affected by these mutations responded to ivacaftor in lab experiments -- in conjunction with data from clinical trials, Dr. Boyle said. Normally, the FDA approves drugs primarily based on clinical trials data.
The FDA decision to use theratyping data advances the era of personalized medicine, defining a pathway to bring existing medications to people who have mutations so rare that it is not possible to conduct a clinical trial. This is significant because more than 1,000 CF mutations occur in five people or less.
Dr. Thomas, who was awarded the 2017 Paul di Sant'Agnese Distinguished Scientific Achievement Award at this year's NACFC, has dedicated his decades-long career to the science behind theratyping. He said he used to feel a little embarrassed when people asked him what he was working on, and he had to tell them he was still working on CF research. He thought he should have made much more progress.
However, today, speaking to the tremendous progress, Thomas said, “In the last three years, I have to tell you that I am proud I am working on CF."
He explained how the theratyping process is now coming to fruition: Researchers are testing approved modulators, which have been deemed safe in people with CF, on cells in the lab. They look for certain biological changes (called biomarkers) in the lab that signal that a drug is working and try to tie those results to improvements in the health of patients taking the drug.
Then, researchers use these same biomarkers to evaluate cells with very rare mutations, and try to predict whether the drug will work in people who have those mutations.
After the successful expansion of ivacaftor, the idea is to keep testing cells to find out whether other mutations respond to existing modulators, with plans to study new modulators as they are approved. In a video played at the plenary, we heard how critical this type of work is from Callie Dolan, an adult with CF who benefitted from the FDA's recent decision.
Currently, there are approximately 650 rare mutations that result in a defective CFTR protein that may be corrected by a modulator and are therefore very good prospects for theratyping. Testing is already underway at three Foundation-funded labs to see if these mutations respond to current modulators. If any of the tests show positive results, the Foundation plans to work with drug companies to see if those mutations can be approved for those drugs. We are hoping that Hailey Huyser, who was also in the video, will be one of the people who will benefit from this type of testing.
We're supporting a number of academic investigators who are working on different parts of the theratyping initiative. As of June 2017, we had $1.5 million in grants for theratyping, with more expected to be funded in the coming year.
We also continue to make progress toward developing potential therapies for the 5 percent of people with CF who have mutations that cannot be treated solely with a modulator. At labs across the country, we are aggressively pursuing cutting-edge approaches -- like RNA therapy and readthrough compounds -- to develop treatments for people with CF with these rare and nonsense mutations. In addition, half of the research being performed at the Cystic Fibrosis Foundation Therapeutics (CFFT) Lab is focused on these types of therapies.
The lab's scientists are also spearheading a new initiative to collect and grow cells from people with rare mutations. These cells will be critical for screening studies to identify new potential drugs and other treatment options for rare mutations. CFFT will be collecting these cells at sites around the U.S. as part of an observational study called RARE.
Until we can find a cure, we will continue to do whatever we can to get life-changing medications safely and quickly to as many people with CF as we can. I'm looking forward to an exciting 2018.
Watch the recording of plenary 1, Matching Medicines With Mutations, in its entirety on YouTube.
Katherine Tuggle, Ph.D.
Director of Research, Cystic Fibrosis Foundation
Katherine has been involved with CF research since 2009 as both a graduate student and postdoctoral fellow at the University of Alabama at Birmingham. In 2014, she joined the Foundation to oversee its basic science research programs, including the 11 basic science research centers around the country. She is also involved in a number of Foundation initiatives focused on developing and validating model systems that may be used for personalized medicine. In her free time, Katherine enjoys traveling with her husband and spending time with her German shepherd.
Share this Post
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.
Follow Us On
Insurance, financial, legal, and other issues. A dedicated, knowledgeable CF Foundation Compass case manager is ready to work with you one-on-one.
Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
800-344-4823 (toll free)
Sign up for our emails