Cystic fibrosis
Therapeutic area
Pulmonology
Rare disease
Yes
- Definition
- Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations.
- Genetic basis
- Yes
- Non-human condition
- No
- Rare disease
- Yes
- Listing at source
- Listed
- Condition name
- Cystic fibrosis
- Therapeutic area
- Pulmonology
- cystic fibrosis
- CF
- cystic fibrosis
- cystic fibrosis lung disease, modifier of
- mucoviscidosis
- pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis
- fibrocystic disease of the pancreas
- All therapeutic areas
- Pulmonology
- Severity
- Severe
- Genetic
- Hereditary
- MONDO ID
- MONDO:0009061
- Parent condition
- MONDO:0005087
Related records
Broader conditions (9)
- Autosomal genetic disease
- Autosomal recessive disease
- Disease
- Disease by body system or component
- Disease by etiologic mechanism
- Disease of genetic or genomic mechanism
- Hereditary disease
- Human disease
- Respiratory system disorder
Narrower conditions (1)
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Trials (1,569)
- : TRANSITION: An Observational Study of Transition From Lumacaftor/Ivacaftor to Tezacaftor/Ivacaftor (Tez/Iva)
- "Safety, Tolerability and Pharmacokinetics of MP-376 Administered for 14 Days to Stable Pediatric (CF) Patients"
- (Study: Vertex IIS) Does Ivacaftor Alter Wild Type CFTR-Open Probability In The Sweat Gland Secretory Coil?
- 18FDG- PET/CT Contribution to the Assessment of Lesion Severity in Cystic Fibrosis (CF)
- 18FDG-PET Imaging to Detect Changes in Airways Inflammation in Cystic Fibrosis Patients
- 19F MRI of Ventilation in Subjects With Cystic Fibrosis Undergoing Treatment for Pulmonary Exacerbation
- 19F MRI to Evaluate Regional Ventilation in Healthy Subjects and Subjects With Cystic Fibrosis
- 1STST and Muscle Weakness in CF Patients
- 28 Day Repeat Dose in Cystic Fibrosis Patients
- 4D-710 in Adult Patients With Cystic Fibrosis
- 6 Minute Walk Test in Cystic Fibrosis
- A 4-week Study to Test Different Doses of BI 1265162 in Adolescents and Adults With Cystic Fibrosis Using the Respimat® Inhaler - BALANCE - CF™1
- A CFit Study - Acute Exercise
- A CFit Study - Baseline
- A Clinical Study to Investigate Safety, Tolerability and Distribution of CHF 6333 After One or After Repeated Inhalation in Patients With Cystic Fibrosis (CF) and in Patients With Non Cystic Fibrosis (NCFB) Bronchiectasis
- A Clinical Trial to Compare the Efficacy and Safety of 1-week Treatment of Intravenous N-acetylcysteine (NAC) 600 mg Twice Daily, Ambroxol Hydrochloride 30 mg Twice Daily and Placebo as Expectorant Therapies in Adult Chinese Patients With Respiratory Tract Diseases and Abnormal Mucus Secretions
- A Coaching Intervention to Young Adults With Cystic Fibrosis
- A Cohort for Inflammatory Respiratory Diseases: From Phenotyping to Personalised Medicine
- A Comparator Study Evaluating Microbiological Resistance and Effects of Alternating Inhaled Antibiotic Therapies
- A Comparison of Clinical Parameters in With and Without Abnormal Glucose Tolerance.
Approved drugs (13)
- Acetylcysteine
- Azithromycin
- Aztreonam
- Aztreonam lysine
- Colistimethate sodium
- Dornase alfa
- Ivacaftor
- Levofloxacin
- Lumacaftor
- Mannitol
- Phytonadione
- Tezacaftor
- Tobramycin
Drugs in development (131)
- .ALPHA.1-proteinase inhibitor human Phase 2
- 16.ALPHA.-bromoepiandrosterone Phase 2
- 552-02 Phase 1
- Acebilustat Phase 2
- Alginic acid Phase 2
- Alvelestat Phase 2
- ALX-009 Phase 1
- Amelubant Phase 1
- Amikacin Phase 3
- Amikacin sulfate Phase 2
- Amiloride Phase 1
- Amiloride hydrochloride Phase 2
- Anakinra Phase 2
- Andecaliximab Phase 2
- Arginine Phase 2
- Ataluren Phase 3
- AZD-1236 Phase 2
- Bamocaftor Phase 3
- Bamocaftor potassium Phase 1
- Bicarbonate Phase 1
Other linked drugs (9)
- Albuterol
- Choline
- Fluticasone
- Ghrelin
- Ibuprofen
- Posaconazole
- Saxagliptin
- Tyloxapol
- Zinc acetate