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.
New funding awards include up to $2.6M to Eloxx Pharmaceuticals to identify potential therapies for CF nonsense mutations
Published on May 27, 2021
BETHESDA, Md. -- Today, the Cystic Fibrosis Foundation announced three new research awards as part of its Path to a Cure initiative to accelerate the development of treatments for the underlying cause of cystic fibrosis for every person with the disease. The latest round of funding includes up to $2.6 million to Eloxx Pharmaceuticals to identify compounds that could potentially treat individuals who have nonsense mutations, as well as awards to Hunterian Medicine and Metagenomi to advance genetic therapies for all people with CF.
Focus on Nonsense Mutations
Under this latest funding agreement, Eloxx will screen its library of more than 2,000 compounds to identify potential readthrough agents to address CFTR nonsense mutations, also referred to as stop mutations, which cause cells to stop the production of the CFTR protein prematurely. Readthrough agents have the potential to enable the ribosome -- the protein-making machinery of the cell -- to “read through” premature stop signals so that a full-length CFTR protein can be made. Once identified, the compounds will go through chemical testing to select those that can be developed into drugs.
In anticipation of future clinical trials, Eloxx will screen for candidates that could work in people with CF who have at least one G542X mutation, the most common nonsense mutation in CF. If proof-of-concept studies are successful, the compound could be used for other nonsense mutations. In January, the Foundation also funded up to $2 million to Eloxx to support the global Phase 2 clinical program of a more advanced compound, ELX-02, for treatment of people with CF who have at least one G542X mutation.
Nearly 4,000 people with CF in the U.S. have one or more nonsense mutations, which are challenging targets for drug discovery and development. Beyond CF there are more than 1,800 diseases caused by nonsense mutations, virtually all of which have eluded researchers seeking FDA-approved therapies. The Foundation is pursuing treatments for people with nonsense mutations -- who are still waiting for a breakthrough because their mutations are not responsive to modulators -- in parallel with its efforts to advance potentially curative approaches that could address all genetic mutations.
“We feel great urgency to identify therapies that target nonsense mutations as we pursue our ultimate goal of a cure for every person with CF,” said William Skach, MD, executive vice president and chief scientific officer for the Foundation. “The early stage research underway at Eloxx complements other Foundation-funded screening programs for nonsense mutation treatments and bolsters our scientific knowledge of these notoriously difficult-to-treat targets.”
Advancing Genetic Therapies
Genetic therapies hold great promise to cure cystic fibrosis, but delivering these therapies in CF is more challenging because of the lung's natural defense mechanisms. Fitting large genes, such as CFTR, inside the adeno-associated viruses that are the standard for gene delivery, is another obstacle that will require novel solutions.
To help develop those solutions, the Foundation awarded up to $600,000 to Metagenomi to identify and develop novel gene editing systems that are small enough to be delivered to lung cells and could potentially be applied to a variety of mutations.
In addition, Hunterian Medicine was awarded up to $300,000 from the Foundation to modify gene therapy components so a healthy CFTR gene can be delivered to lung cells. Hunterian has identified very small promoters that control expression of the gene and will use CF Foundation support to conduct preclinical lab tests to choose the promoter that works best in cells lining the lungs.
About the Path to a Cure
The CF Foundation launched its $500 million Path to a Cure initiative in October 2019. This initiative centers around three core strategies to address the underlying cause of CF: repairing broken CFTR protein, restoring CFTR protein when none exists, and fixing or replacing the underlying genetic mutation to address the root cause of CF. Each approach requires a different set of scientific tools and knowledge, leading the Foundation to bring together researchers and industry leaders from a range of disciplines to advance multiple areas of research in parallel. Learn more about the Path to a Cure and related funding opportunities on cff.org.
The Cystic Fibrosis Foundation is the world's leader in the search for a cure for cystic fibrosis. The Foundation funds more CF research than any other organization, and nearly every CF drug available today was made possible because of Foundation support. Based in Bethesda, Md., the Foundation also supports and accredits a national care center network that has been recognized by the National Institutes of Health as a model of care for a chronic disease. The CF Foundation is a donor-supported nonprofit organization. For more information, visit cff.org.
Share this Page
Follow Us On
Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
800-344-4823 (toll free)
Sign up for our emails