As we observe Cystic Fibrosis Awareness Month this year, there are many reasons for optimism in the field. In this 2-part series, we explore the latest updates and exciting developments in cystic fibrosis. To read more, visit Part II.

As a result of advances in treatment for individuals with cystic fibrosis (CF) in the past few decades, rates of survival and quality of life among these patients have improved significantly.1 For example, a longitudinal study based on patient registry data in the United Kingdom concluded that more than one-half of babies and individuals aged 30 years and older with CF are expected to live into their fifth decade, compared with previous estimates of 48 and 43 years for male and female patients with CF, respectively.2

These trends are likely to continue along this trajectory with the recent introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies and other anticipated advances.3 However, the burden of care for patients with CF remains high, and there are many ongoing needs to further improve outcomes for this population.


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To discuss the latest updates and continuing gaps in CF treatment, we interviewed Christopher M. Oermann, MD, director of the Division of Allergy, Immunology, Pulmonary and Sleep medicine in the Department of Pediatrics and director of the Cystic Fibrosis Center at Children’s Mercy in Kansas City, and professor of pediatrics at the University of Missouri-Kansas City School of Medicine

What are the main challenges in CF management?

Dr Oermann: Historically, care teams and people with CF and their families have faced a number of challenges together as they engaged in coproduction of health care.

There has been a steadily increasing burden of care for people with CF as new treatments have been developed over the past 3 decades. Maintenance therapies intended to prevent deterioration in lung function have taken longer and longer amounts of time to complete. The burden of care is particularly challenging for individuals with more advanced lung disease who have additional therapy requirements. Burden of care directly relates to the next 2 issues, which are interrelated.

Adherence to prescribed treatment regimens has been a longstanding challenge in CF care, and the increasing burden of care has made this a growing concern. Adherence is generally better among preschool children with fewer therapy requirements. It certainly worsens during adolescence. I often tell my adolescent patients that it’s hard to be a teenager these days, and it’s hard to have CF, so it’s really, really hard to be a teenager with CF, but they have to put in the work to stay healthy. 

Individuals with advanced lung disease, whether younger children, adolescents, or adults, can easily spend 4 or more hours a day doing CF treatments. We know that people are often forced to prioritize treatments and that many don’t get done due to the limited number of hours in a day. This issue segues into the next challenge, which is balancing one’s life with the disease. 

As a health care provider, it is easy for me to prescribe therapies for my patients with little regard for what these therapies entail for the patient. It is always a struggle to remember that patients are, first and foremost, people. They have lives outside whatever disease process they may have. Hours of treatments a day for full time students or working adults is a huge ask and may not be realistic. I always tell my kids and their families that they are not CF; it does not define them and is just another part of who they are. I need to remember that. 

Cost and access are additional significant challenges for the families of those with CF and for society. As new treatments have been developed and the burden of care has increased, so has the cost of providing those treatments. This is true for families who may have enormous medication costs — even with “good” insurance — and for health care systems. Furthermore, not all people with CF have equal access to new therapies. We, as a society, must address these growing issues moving forward. 

What are some of the most notable recent developments in CF treatment, and how have these changed outcomes and quality of life for CF patients?

Dr Oermann: The development of highly effective CFTR modulator therapy has been the single most important occurrence in CF care and treatment ever. The impact of these medications cannot be overstated and is really immeasurable in terms of improved outcomes and quality of life for people with CF and their families. Clinical trials leading to the FDA [US Food and Drug Administration] approval of these medications showed benefits across the board:  lung function, nutrition and GI [gastrointestinal] status, decreased exacerbations of airway infection, quality of life, everything. 

These same improvements have continued in the “real world” use of these drugs. They have truly revolutionized care. It will be fascinating to see the long-term impact of early treatment with CFTR modulators. Can we essentially prevent lung disease from developing? How much disease can be reversed in people with advanced lung disease? What will the new standard of care be, and can the burden of care be significantly reduced? It has been amazing and humbling to be part of this. 

What are the top remaining needs in CF in terms of research, education, and advocacy?

Dr Oermann: Highly effective CFTR modulator therapy has been life-changing for the majority of people with CF, but not all. There are still many people with mutations not treatable with existing modulator therapy. Developing treatments for these individuals remains a huge priority for the Cystic Fibrosis Foundation and the entire CF care community. There are many drug development programs aimed at filling this void and bringing modulator therapy to all people with CF. 

As I mentioned, there are many people with CF who already have advanced lung disease. It isn’t clear how much of this can be reversed with modulator therapy, so there is an ongoing need to develop treatments for the downstream effect of CF including inflammation, infection, malnutrition, etc. Additionally, there is a compelling need for additional research into the “nonphysiologic” aspects of CF including behavioral, mental health, and psychosocial function. 

I am a huge believer in all forms of education. The CF care community really needs to engage broadly in the education of people with CF and their families, the greater health care system including primary and subspecialty care, and society as a whole. The more everyone knows about CF, the better.

Advocacy is another significant need within the CF care community. As above, the cost of CF care has been increasing steadily over decades and has skyrocketed with the marketing of CFTR modulator therapy. The increasing cost of CF care is straining most systems and may not be sustainable without addressing cost containment. There is also an imperative to recognize the needs of people with CF, as well as other populations with special health care needs, to ensure equity and social justice through legislation and other means. 

Are there any further points you would like to mention?

Dr Oermann: As I said, it has been amazing to witness and be part of the transformation of CF care through highly effective CFTR modulator therapy, but we need to remember that we are not at the finish line yet.

People with CF are some of the bravest, strongest, most determined, and most resilient people I have met. It has been a pleasure and privilege to work with them.

The CF care community is a truly inspiring group of individuals without whose constant effort and passion to improve the lives of people with CF and their families the remarkable improvements we have witnessed would not be possible. It is an honor to consider myself part of this community. 

References

  1. Jaques R, Shakeel A, Hoyle C. Novel therapeutic approaches for the management of cystic fibrosis. Multidiscip Respir Med. 2020;15(1):690. doi:10.4081/mrm.2020.690
  2. Keogh RH, Szczesniak R, Taylor-Robinson D, Bilton D. Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: A longitudinal study using UK patient registry dataJ Cyst Fibros. 2018;17(2):218-227. doi:10.1016/j.jcf.2017.11.019
  3. Young TJ, Li DA, Eshaghian PH. Cystic fibrosis: an update on disease pathophysiology, management, and novel modalities of therapyCurr Treat Options Allergy. 2019;6:226–237. doi:10.1007/s40521-019-00211-4