Rare Disease Day Spotlight: Cystic Fibrosis

Angela Luong, PharmD, RPh
February 28, 2022

What is cystic fibrosis?

People tend to consider cystic fibrosis (CF) a pediatric disease; however, it can also affect adults. CF is an autosomal recessive genetic disorder that causes problems with breathing and digestion. People with CF produce mucous that is too thick and sticky that:

  • Builds up and can clog the airways leading to lung damage
  • Traps germs leading to frequent lung infections
  • Prevents needed proteins for digestion from reaching the intestines, which results in the body’s inability to absorb nutrients from food

Patients will often have recurrent lung infections and difficulty breathing as CF progresses. Additionally, nutritional malabsorption can occur, which requires complex treatment plans and frequent visits to see their specialist providers.

CF affects about 35,000 people in the U.S., and due to scientific advances in treatment, patients today are expected to live into their forties, compared to the 1980s, where most children born with CF did not live to adulthood.


Innovation in CF treatment

Before 2012, treatment plans for CF patients included supportive therapy to treat the symptoms of CF such as antibiotics, asthma inhalers, pancreatic enzymes replacement therapies, and inhaled antibiotics.

Ten years ago, there was a significant breakthrough after identifying the cystic fibrosis transmembrane conductance regulator (CFTR) gene defects that cause CF. The U.S. Food and Drug Administration (FDA) approved Kalydeco™ (ivacaftor), the first innovative therapy to target the CFTR gene, in January 2012.

Yet, Kalydeco’s initial approval was only able to treat genetic mutations found in 4% of patients with CF. Several other CFTR modulators followed with approval from the FDA since 2012, which expanded treatment for genetic mutations found in about 50% of CF patients

Advances in CF treatment continued with Trikafta® (elexacaftor/ivacaftor/tezacaftor), the latest FDA-approved treatment. It hit the market in October 2019. Trikafta further expanded therapy to treat genetic mutations found in about 90% of the CF population. These targeted therapies for CF patients have improved the overall health of CF patients by decreasing the need for supportive drug therapies and improving their quality of life.


Concerns and controversies with CF drugs

It is no secret that CFTR modulators come with a hefty price tag. Trikafta costs an estimated $275,000 annually per patient.

The question, especially for payers, is how to measure the benefit of this expensive therapy. Payers experience decreased costs related to supportive drug therapies and medical services. Patients with CF experience an increased quality of life due to:

  • Reduction or elimination of chronic cough
  • Decrease in emergency room visits
  • Less pulmonary events

Because of these clinical improvements, these CF patients can participate in everyday activities such as exercise, social events, and miss less time at work or school.

Using the Artemetrx book of business data, the results of Trikfata are noteworthy, showing that 74% of patients had reduced medical costs after starting Trikafta.

The challenge of the high cost of specialty drugs is always a hot topic with payors and patients, especially with rare diseases with limited therapeutic options. Understanding the clinical value for cost can be difficult. Despite the price point, the breakthrough in targeted CF therapy with CFTR modulators, rather than simply supportive care, has dramatically improved the overall health, lifespan, and quality of life of those living with CF.

Angela has over 12 years of experience in managed care following her doctorate of pharmacy training from the University of Michigan College of Pharmacy. Angela completed a PGY-1, managed care residency focusing on data analytics, consulting and specialty medication management. Following her career, Angela has extensive experience in various positions through out the pharmacy benefit management realm, including benefit operations, Medicare Part D clinical utilization management programs, commercial utilization management programs, commercial and Medicare Part B medical policy strategies, Specialty trend management and clinical programs, specialty pharmacy network management, and manufacture clinical engagement.