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Cystic Fibrosis and the Uncommon Journey Towards Tailored Therapies in a Rare Disease Context

NextEdge Admin

26 Mar 2024

3 min 36 sec

cystic fibrosis transmembrane conductance regulator (CFTR),digestive systems

Cystic fibrosis (CF), a genetic disease, arises from inheriting two faulty genes, typically one from each parent, making it an autosomal recessive monogenic disorder. The defective cystic fibrosis transmembrane conductance regulator (CFTR) gene affects mucus, sweat, and digestive fluid production, causing abnormal stickiness and thickness, leading to blockages in organs like the lungs and pancreas. The prevalence is higher in the Caucasian population, with 1 in 2,500 to 3,500 newborns affected, compared to 1 in 17,000 for black newborns and 1 in 31,000 for Asian descent.

CF symptoms, impacting the respiratory and digestive systems, vary in severity and may progress differently over time. Respiratory symptoms involve persistent coughing, wheezing, and infections, while digestive symptoms include malabsorption, poor weight gain, and intestinal blockages.

Newborn screening enables early diagnosis before symptoms appear, crucial for effective intervention. Genetic testing powered by NGS are of paramount importance for diagnosis.

Personalized treatment is important due to the diverse mutational classes affecting the CFTR gene. There are six classes, each requiring specific correction approaches. Class I mutations involve premature stop signals, and researchers are exploring drugs to override these signals. Class II mutations result in incorrectly folded CFTR proteins, hindering proper cellular transport. Class III mutations lead to CFTR proteins with difficulty opening chloride channels. Class IV mutations create challenges in chloride transfer, like Class III but in a distinct way. Class V mutations reduce CFTR production, prompting research to boost production. Class VI mutations result in CFTR proteins lacking stability, affecting their function.

Despite advancements, there is limited medication available. Ivacaftor is a CFTR potentiator, meaning it helps the defective CFTR protein function more effectively. Ivacaftor treats cystic fibrosis (CF) by targeting the G551D mutation, enhancing the function of the defective CFTR protein and improving chloride ion transport. This reduces mucus thickness in the airways, aiding individuals with this specific mutation. Genetic testing determines its suitability, as it may not be effective for all CF cases.

Gene replacement therapy is being explored in clinical trials, but financial challenges, with drugs like Ivacaftor being costly, emphasize the need for cost-effectiveness studies to guide funding decisions, considering the potential downstream benefits in mitigating disease-related costs and burdens.