Nearly 4,000 doctors, researchers and caregivers convened in Anaheim, Calif., Nov. 3 - 5 for the 25th North American Cystic Fibrosis Conference (NACFC).
Sponsored by the Cystic Fibrosis Foundation, the annual conference brings together leading scientists and health care professionals from around the world to exchange ideas about the latest progress in CF research and discuss ways to improve the quality of life for people with CF.
The most widely attended sessions were the plenaries, which included presentations on the progress of experimental therapies targeting the root cause of CF, collaborative research on CF mutations and approaches to managing pulmonary exacerbations in people with CF.
Scroll down to read summaries and watch full-length videos of select plenary sessions.
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Plenary Session 1: CFTR Modulation — 25 Years of NACFC Progress
Speaker: Marcus A. Mall, M.D.
Marcus A. Mall, M.D., professor of pediatrics and head of the Cystic Fibrosis Center at University Hospital Heidelberg, Germany, gave an overview of progress over the past two decades in developing drugs to treat the underlying cause of CF.
Beginning with the discovery of the CF gene in 1989, Dr. Mall described early milestones in understanding the defective CFTR protein in people with CF. Chief among these were the demonstration that CFTR plays a role in regulating the flow of salt and fluids across the cell membrane, and the identification of the Delta F508 mutation as the most common mutation of CF.
Later research established the mechanisms that lead to obstruction of the airways in people with CF, triggering chronic infection, inflammation and damage of the lungs, and also identified different classes of CF mutations that affect CFTR function in distinct ways that may require specific treatments.
Mall presented results from clinical trials of the first potential therapies targeting the defective protein, highlighting the phase 3 studies of VX-770 (Kalydeco™) that showed significant improvements in multiple key symptoms in people with the G551D mutation of CFTR. These breakthroughs, Mall noted, will also lead to questions as new CFTR modulators are discovered and developed, including how much CFTR function must be restored to prevent or lessen the symptoms of CF.
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Plenary Session 2: CFTR2 — A Research and Clinical Practice Tool
Speakers: Garry R. Cutting, M.D., and Patrick R. Sosnay, M.D.
Garry R. Cutting, M.D., professor of pediatrics at Johns Hopkins University, introduced the CFTR2 database, a major international research effort now underway to classify the different mutations of cystic fibrosis and determine the relationships between specific mutations and clinical signs and symptoms of CF.
Researchers have identified more than 1,800 mutations of CF. Some are common, such as Delta F508, while others are found in only a few people. In addition, some mutations in the CF gene do not cause the symptoms associated with the disease.
The CFTR2 database currently contains information on the specific mutations and clinical symptoms of nearly 40,000 people with CF, contributed by patient registries and CF care centers worldwide. Dr. Cutting explained how the CFTR2 team determined which mutations truly cause CF disease as well as the likely effect a particular CF mutation would have on symptoms.
Patrick Sosnay, M.D., instructor of medicine at Johns Hopkins University, discussed some of the ways CFTR2 can be used to advance clinical care and therapeutic development programs. In the future, as therapies targeting specific CF mutations become available, the database could help clinicians choose the best medication for a person with CF.
Both speakers underscored the importance of patient registry data and the extensive collaborations across countries and disciplines that, along with the support of the Cystic Fibrosis Foundation, have made the project possible.
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Plenary Session 3: Pulmonary Exacerbations — Out of the Wilderness
Speaker: Patrick A. Flume, M.D.
The final plenary focused on different approaches to understanding and managing pulmonary exacerbations in people with CF. Patrick A. Flume, M.D., professor of medicine and pediatrics and director of the CF care center at the Medical University of South Carolina, outlined the serious impact pulmonary exacerbations have on people with CF and their importance in CF care.
Exacerbations are typically defined as acute events — a sudden worsening of CF symptoms accompanied by a steep decline in lung function — and are treated with antibiotics to kill the bacteria that cause them.
Despite the steady improvement in lung function in the CF population, pulmonary exacerbations still occur frequently in people with CF. Dr. Flume suggested that new ways of defining pulmonary exacerbations and new models to treat them may be necessary.
Research on the bacteria Pseudomonas aeruginosa in people with CF illustrates the complexity of determining which aspect of the bacteria causes the problems associated with exacerbations. There is also limited evidence on which health outcomes the antibiotics improve, raising the possibility that some pulmonary exacerbations are signs of chronic decline from CF, rather than acute events.
The CF Foundation Patient Registry has recently begun tracking outcomes of treatment for pulmonary exacerbations. Flume described other efforts to better measure exacerbations and improve treatment strategies, including tools to incorporate patient-related outcomes into monitoring for exacerbations and a study of early intervention for pulmonary exacerbations now underway.
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