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.
To aid clinicians, patients, and families in the best use of modulators, the Cystic Fibrosis Foundation sponsored the creation of guidelines to inform discussions and support decision-making.
Ren CL, Morgan RL, Oermann C, et al. Cystic Fibrosis Pulmonary Guidelines: Use of CFTR Modulator Therapy in Patients with Cystic Fibrosis. Ann Am Thorac Soc. 2018 Mar. doi: 10.1513/AnnalsATS.201707-539OT.PMID: 29342367
Since the original description of cystic fibrosis in the 1930s, clinical management has focused on treating symptoms and delaying end-organ effects. Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a promising new class of small-molecule medications that can partially restore function in mutated CFTR. The first of these therapies was ivacaftor (Kalydeco®), which is a potentiator of CFTR function in patients with certain gating mutations that result in loss of ion conductance. The U.S. Food and Drug Administration (FDA) initially approved this medication for clinical use in patients with G551D mutations in 2012.
Only about 10 percent of patients with CF in the United States carry mutations that are responsive to ivacaftor. Approximately 50 percent of patients with CF are homozygous for the mutation F508del, and another 40 percent are heterozygous for this mutation. F508del results in folding defects leading to decreased CFTR at the cell surface, as well as gating defects causing decreased conductance. Lumacaftor can partially correct the folding defect in F508del-CFTR, resulting in slightly increased surface protein, but ivacaftor is also needed to improve conductance. In 2015, the FDA approved lumacaftor/ivacaftor (Orkambi®) for patients with CF ages 12 years or older homozygous for F508del. Since that time, labeling has expanded for this genotype to include patients ages 2 years and older.
To aid clinicians, patients, and families in the best use of these medications, the CF Foundation sponsored the creation of a guideline development committee consisting of independent CF caregivers from multiple disciplines and patient representatives. The objective of the committee was to develop guidelines to help inform discussions and provide support for decision-making between CF care teams and patients and families.
A multidisciplinary committee was formed consisting of individuals with expertise and experience in CF care including:
Because of the CF Foundation's potential conflict of interest in the creation of these guidelines, no CF Foundation staff member participated in the writing or development of the recommendations. The committee created a series of clinical questions focusing on issues of interest and importance to CF clinicians, patients, and their families. A systematic review was conducted of peer-reviewed literature, specifically randomized controlled trials, and was included for meta-analysis.
This was the first CF guideline to use the GRADE (Grading of Recommendations Assessment, Development, and Evaluation) methodology to assess the evidence and develop recommendations.
The committee chose not to address clinical situations (for example, ivacaftor therapy for patients ages 12 years or older with CF who carry at least one copy of the G551D mutation, or if the question was of low priority and unlikely to change practice) for which recommendations have already been published (such as guidelines for chronic medications to maintain lung health and preschool-aged care clinical care guidelines). All recommendations listed below refer to the details of the question listed above the accompanying table.
The committee suggested that decisions on whether to prescribe lumacaftor/ivacaftor depend on several factors. Providers should consider whether their patients would benefit substantially from treatment and would tolerate the side effects. Other considerations include possible drug-drug interactions, insurance coverage, and cost.
Question 1: Should ivacaftor versus no CFTR modulator treatment be used for individuals with a CF diagnosis due to gating mutations other than G551D or R117H (for example, G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P, or G1349D)?
Use of ivacaftor in children ages 2-5 years
Based on published preschool guidelines
(Those younger than 2 years, the committee makes no recommendations.)
Use of ivacaftor in children ages 6-11 years with forced expiratory volume in one second (FEV1) <40% predicted
Very low certainty in the evidence
Use of ivacaftor in children ages 6-11 years with FEV1 40%-90% predicted
Low certainty in the evidence
Use of ivacaftor for children ages 6-11 years with FEV1 >90% predicted
Use of ivacaftor for individuals ages 12-17 years with FEV1 <40% predicted
Use of ivacaftor for individuals ages 12-17 years with FEV1 40%-90% predicted
Moderate certainty in the evidence
Use of ivacaftor for individuals ages 12-17 years with FEV1 >90% predicted
Use of ivacaftor for individuals ages 18 years or older with FEV1 <40% predicted
Use of ivacaftor for individuals ages 18 years or older with FEV1 40%-90% predicted
Use of ivacaftor for individuals ages 18 years or older with FEV1 >90% predicted
Question 2: Should ivacaftor versus no CFTR modulator treatment be used for individuals with a CF diagnosis due to the R117H mutation?
Suggests against the use of ivacaftor for children ages 0-5 years
Use of ivacaftor for children ages 6-11 years with FEV1 <40% predicted
Use of ivacaftor for children ages 6-11 years with FEV1 40%-90% predicted
Suggests against the use of ivacaftor for children ages 6-11 years with FEV1 >90% predicted
Suggests against the use of ivacaftor for individuals ages 12-17 years with FEV1 >90% predicted
Use of ivacaftor for individuals ages 18 years or older with an FEV1 <40% predicted
Use of ivacaftor for individuals ages 18 years or older with an FEV1 40%-90% predicted
Use of ivacaftor for individuals ages 18 years or older with an FEV1 >90% predicted
Question 3: Should lumacaftor/ivacaftor combination drug versus no CFTR modulator treatment be used in individuals with two copies of the F508del mutation?
Use of lumacaftor/ivacaftor therapy in children ages 0-5 years
Use of lumacaftor/ivacaftor in children ages 6-11 years with FEV1 <40% predicted
Use of lumacaftor/ivacaftor for children ages 6-11 years with an FEV1 40%-90% predicted
Use of lumacaftor/ivacaftor for children ages 6-11 years with FEV1 >90% predicted
Use of lumacaftor/ivacaftor for individuals ages 12-17 years with FEV1 <40% predicted
Use lumacaftor/ivacaftor for individuals ages 12-17 years with FEV1 40-90% predicted
Use of lumacaftor/ivacaftor for individuals ages 12-17 years with an FEV1 >90% predicted
Use ivacaftor/lumacaftor for individuals ages 18 years or older with FEV1 <40% predicted
Use lumacaftor/ivacaftor for individuals ages 18 years or older with FEV1 40%-90% predicted
Use of lumacaftor/ivacaftor for individuals ages 18 years or older with FEV1 >90% predicted
*The committee created these guidelines prior to the FDA announcement on Aug. 7, 2018 expanding lumacaftor/ivacaftor to children ages 2 to 5. Updated guidelines will need to be considered based on evaluation of benefit, tolerance, possible drug-drug interactions, and cost.
Angela Delecaris, MD (Indiana University) and Edward T. Naureckas, MD (University of Chicago)
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