We Must Pay Closer Attention to the Global CF Population

Tré LaRosa avatar

by Tré LaRosa |

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Based on the stringent qualifications the Cystic Fibrosis Foundation uses to determine who has cystic fibrosis, approximately 70,000 people currently have CF worldwide. That includes 30,000-35,000 in the United States. In this broad population, many subpopulations fit neatly into the CFF’s qualifications. Others do not.

As much as we all wish it were different, CF is not the simple disease it was once believed to be. I wrote about this spectrum of the disease a few months ago. Essentially, the thesis of that piece was that CF is not a monolithic disease that affects everyone the same.

The most common subpopulation of CFers consists of those with two copies of the ∆F508 allele. This mutation has historically seen the most research. It’s a tough allele to understand and requires at least one corrector and one potentiator to even slightly “fix” it, such as Orkambi (lumacaftor/ivacaftor) and Symdeko (tezacaftor/ivacaftor).

A rarer mutation like G551D is easier to understand and only requires a potentiator to significantly improve it, such as Kalydeco (ivacaftor).

Meanwhile, the results from important triple combo studies, which Cystic Fibrosis News Today reported on, are extremely promising and show a significant benefit for a wide subpopulation of CFers with one or two copies of ∆F508. It’s estimated that up to 90 percent of people with CF may benefit from the inevitable triple combo therapy in the next few years.

I want to bring attention to some important details. Much like we can’t allow ourselves to forget the people with no copies of ∆F508 or those with hard-to-fix mutations (and other types), we also can’t forget about the global population of people with CF. Since it is believed that the ∆F508 mutation originated in Western Europe about 5,000 years ago, it is true that CF mostly affects white populations. However, it also affects every ethnicity in the U.S., which means there is a worldwide population that does not have the same access to medications that we have.

I don’t want to spend too much time on the U.S. healthcare system and how broken it is. This strange, hard-to-navigate system makes it difficult for affected patients to obtain the medications and the care they need. Despite all of that, CF care still is exceptional in the U.S. As we witness a standoff between the U.K.’s National Health Service and the pharmaceutical company Vertex, which manufactures Orkambi, Symdeko, and Kalydeco, over the pricing for CF medications, we should acknowledge how fortunate our population is here. But we also must realize how far we still have to go for our companions around the world.

In the U.S. in 2019, CF is a bad diagnosis, but we have state-of-the-art care, which means infants with CF tend to do quite well here. It’s reasonable to think that there are babies across the world — and even in the U.S. — with some gradient of CF, CF-related diabetes, or CF metabolic disorder that do not get proper care and die of dehydration or malnourishment. If they survive past infancy, they may fail to thrive, struggle with chronic lung infections, or have debilitating intestinal pain that they might never recover from. Sadly, I think this is the reality. It makes me concerned for how many people across the world are affected by CF but never see the light of even basic medical intervention. This includes chest physiotherapy, enzymes, hypertonic saline, or albuterol.

As we move toward the future of better CF care, we must remember that access to all medication and a better understanding of what cystic fibrosis really is and how to treat it by everyone with CF on Earth is the only acceptable path forward.

Follow along with my other writings on my humbly named site, www.trelarosa.com.


Note: Cystic Fibrosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Cystic Fibrosis News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to cystic fibrosis.


Christina Walker avatar

Christina Walker

I agree wholeheartedly with this piece. I recently helped to organise a letter to CEO of Vertex Dr Jeffrey Leiden, pleading with him to steer his company towards treating a global population, not just those able to afford the highest priced medicines. Please see our letter, which was supported by patients, advocates and clinicians across the World: https://www.cfsupportgroup.org/letter-to-jeffrey-leiden
I was inspired to collaborate on this letter by the situation of my own son in UK and after contact from a Polish parent for whom their is no chance of access, because Vertex have not submitted data there. I worked with a group of passionate advocates across the globe on the wording to bring together the more than half of eligible patients that remain untreated with modulator drugs to voice a united plea to Vertex. Sadly that plea remains unsatisfied and patients untreated and dying prematurely.

Daniel avatar


Hi Tre, I'd never spent more than a passing thought to the fact that there are Cfers in countries around the world with little or no recourse to the kind of medical care we are used to in Europe. Does anybody know roughly how many people have CF in developing countries in Latin America, Africa and Asia? I'd love to know!


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