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Pulmonary & Respiratory

Cystic Fibrosis

Affects approximately
About 30,000 people in the U.S.; 1 in 2,500 to 3,500 births among Caucasians

Also known as: CF

Cystic Fibrosis

About Cystic Fibrosis

Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CFTR encodes a chloride channel protein essential for regulating ion transport across epithelial cells. When CFTR is absent or dysfunctional, chloride transport is impaired, causing thick, sticky secretions in the lungs, pancreas, intestines, and other organs. In the lungs, thick mucus accumulates, obstructs airways, and promotes chronic bacterial infections, leading to progressive airway inflammation, bronchiectasis, and eventual respiratory failure. In the pancreas, viscous secretions damage pancreatic tissue, causing exocrine insufficiency (requiring enzyme replacement) and endocrine dysfunction (type 1 diabetes). GI symptoms include malabsorption and failure to thrive. CF is a complex multisystem disease requiring comprehensive, multidisciplinary care. Recent breakthroughs with CFTR modulators (especially lumacaftor/ivacaftor and newer combinations) have dramatically improved outcomes for patients with specific CFTR mutations.

Common Symptoms

  • Persistent cough with sputum production
  • Recurrent respiratory infections
  • Wheezing and shortness of breath
  • Failure to thrive and malabsorption
  • Fatty, foul-smelling stools (steatorrhea)
  • Pancreatic insufficiency and insulin-dependent diabetes in some patients

Who It Affects

Usually diagnosed in early childhood, though newborn screening enables earlier diagnosis. Autosomal recessive inheritance. Most common in Caucasians of European descent, but occurs in all ethnic groups.

Getting Involved in Clinical Trials

Clinical trials are evaluating next-generation CFTR modulators and combination therapies for additional CFTR mutation classes, gene editing approaches (CRISPR), and supportive therapies addressing complications. The Cystic Fibrosis Foundation and patient organizations maintain comprehensive trial databases. If you have CF, genetic testing to identify your specific CFTR mutations is essential to determine which CFTR modulators you might benefit from. Current modulators have transformed outcomes for many patients, extending lifespan from decades to potentially normal lifespan. Discuss with your CF care team about eligibility for new modulators and trials.

Trusted Sources

Active Clinical Trials for Cystic Fibrosis

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