🧬 Genetic Disorder

Cystic Fibrosis

Also known as: CF, Mucoviscidosis

Cystic fibrosis is a progressive genetic disease that causes persistent lung infections and limits the ability to breathe over time. It affects the cells that produce mucus, sweat, and digestive juices, causing these fluids to become thick and sticky.

ICD-10: E84 Orphanet: ORPHA586 OMIM: 219700
👥 1 in 2,500 to 3,500 Caucasian newborns Prevalence
🔬 156 Active Trials

Cystic fibrosis makes the body produce thick, sticky mucus that clogs the lungs and makes it hard to breathe. It also affects digestion. New medicines called 'modulators' help fix the problem at its source, and people with CF are living much longer and healthier lives than ever before.

Signs & Symptoms

  • Persistent cough with thick mucus
  • Recurrent lung infections
  • Wheezing and breathlessness
  • Poor weight gain and growth
  • Greasy, bulky stools
  • Intestinal blockage (meconium ileus in newborns)
  • Salty-tasting skin
  • Nasal polyps
  • Male infertility
  • Clubbing of fingers

Treatment Options

MEDICATION FDA Approved

Elexacaftor/Tezacaftor/Ivacaftor (Trikafta)

HIGHLY EFFECTIVE Approved 2019
MEDICATION FDA Approved

Ivacaftor (Kalydeco)

HIGHLY EFFECTIVE Approved 2012
MEDICATION FDA Approved

Lumacaftor/Ivacaftor (Orkambi)

MODERATELY EFFECTIVE Approved 2015
MEDICATION FDA Approved

Tezacaftor/Ivacaftor (Symdeko)

MODERATELY EFFECTIVE Approved 2018
MEDICATION FDA Approved

Dornase alfa (Pulmozyme)

MODERATELY EFFECTIVE Approved 1993
THERAPY FDA Approved

Airway clearance therapy

HIGHLY EFFECTIVE
TRANSPLANT FDA Approved

Lung transplantation

HIGHLY EFFECTIVE
GENE THERAPY

Gene therapy

EXPERIMENTAL

Diagnosis

  • Newborn screening (immunoreactive trypsinogen)
  • Sweat chloride test
  • Genetic testing for CFTR mutations
  • Pulmonary function tests
  • Chest X-ray and CT
  • Sputum culture
  • Fecal elastase test

History

CF was first recognized as a distinct clinical entity by Dorothy Andersen in 1938. The sweat test was developed in 1959. The CFTR gene was identified in 1989 by Francis Collins, Lap-Chee Tsui, and John Riordan. The approval of ivacaftor in 2012 marked the beginning of the CFTR modulator era, with Trikafta (2019) representing a breakthrough for approximately 90% of CF patients.

Recent Breakthroughs

2024

Trikafta approved for younger children

FDA approval extended to children as young as 1 year old, enabling earlier intervention.

2024

mRNA therapy shows promise

Inhaled mRNA therapy trials demonstrate ability to deliver functional CFTR to lung cells.

2023

CRISPR gene editing advances

Successful correction of CFTR mutations in patient-derived cells using base editing approaches.