Although Cystic Fibrosis is a rare genetic disease that has only received serious medical attention in the last 50 years, there have been significant medical advancements in recent years.
2 Treatment Types
The majority of treatment options in the 20th century revolved around symptom management by clearing the lungs of mucus and treating lung infections with antibiotics. However, as technological capabilities and CF awareness increased, new treatment options have emerged, leading to an increase in average life expectancy of over 40 years! There are generally two treatment types: Symptom Treatment, which was the primary option for those with Cystic Fibrosis, and the newer Underlying Cause Treatment, which has had a tremendous impact on patient outcomes in recent years.
The first, and most common treatment, is Symptom Treatment, which aims to alleviate the symptoms of Cystic Fibrosis. Symptom treatment can vary from a single or combination of many practices, depending on the unique needs of each patient.
Underlying Cause Treatment
The second, more recently available type of treatment is Underlying Cause Treatment. Underlying Cause Treatment arose in the 1990’s when the defective CFTR gene was first identified as the cause of Cystic Fibrosis, and the first modulator was used in treatment. Underlying Cause Treatment aims to restore function of the CFTR protein through the usage of CFTR modulators, which can be potentiators, correctors, or amplifiers.
Potentiators, such as Ivacaftor, are used to allow chloride (or salt) to flow through the cell membrane. When potentiators are used to treat CF,
Correctors help the CFTR protein take the correct shape. 90% of those with Cystic Fibrosis have the F508del mutation, which prevents the CFTR protein from forming the right shape to pass through the cell membrane.
Amplifiers (In development) are used to increase the amount of CFTR protein that is made.
Medical advancements in recent years have vastly improved the quality of life and life expectancy for those with CF. Researchers seem to suggest that access to the latest available medication, treatment options and CFTR modulators may impact these factors. As a foundation, we seek to advocate for continued efforts to build on recent momentum and ensure these new advancements and treatment options are accessible to those in need.