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*The CF Roundtable does not give medical advice. Any medical opinions represented in these articles are those of the writer and do not represent the views of USACFA, any of our community partners, or any other group or individual. We strongly suggest you consult your doctors regarding any medical references and before altering your medical regimen in any way. USACFA does not endorse any products or procedures. 

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CF rare mutations and the fear of being left behind


By Miriam Figueira


Not being included in the breakthrough therapies for the CF community makes me experience a lot of bittersweet emotions that are hard to express. I will try my best to bring awareness to this situation in this blog!

First, though, I need to mention that seeing our CF friends in better health from being able to access modulators brings me a lot of joy and uplifts my spirits. At the same time, I experience uncontrollable sadness for not being included. It is contradictory. It's confusing. It's also human.

As I cheer for my CF peers eligible for Trikafta and other modulators, I hope those of us not eligible are kept in mind. I hope to help bring awareness and a voice to this population.

I'm not only involved with CF by being a patient but I'm a CF researcher as well. I decided to do my Postdoc work with the topic most relevant to having a life with CF: the CFTR gene and the modulator treatments that have arisen to fix the problems it’s mutation causes. Part of my work is testing the response that cells from CF patients have to different modulators using various techniques. Even though I'm not eligible for any current modulators, I'm still fascinated by them from a scientific point of view and as a hopeful patient. I want to continue bringing more knowledge about CFTR modulators and CF.


We are all members of a rare disease community that fundraises and bring awareness together for CF. But imagine having a rarer form (mutation) of this rare disease: Finding funding, researchers, and companies' interest in your mutations is even harder. That's why I'm speaking up, with the hope that more and more people help us fund more research to less common mutations too.

To be able to treat them, we need first to understand more about them as a community. Here are some crucial technical and essential points to understand:


  • The final 10% is referring to the population in the US not eligible for the new treatments. Still, in other countries, this number of patients not qualified can be higher, reaching up to 30% or more of the CF population.

  • The non-eligible are mainly patients with two mutations, either Class 1 or a no-508del Class 2 variant.

  • Class 1, encompass different types of mutations: for example, Splicing, frame-shift, and nonsense mutation. Class 1 won't respond to CFTR modulators because these mutations don't produce a CFTR protein to modulate. Therefore, class 1 will need other technologies for addressing their defects, such as mRNA therapy or the potentiation of alternatives chloride channels. The read-through agents are also a possibility designed specifically for nonsense mutations within the class 1 category.

  • Class 2 mutations do produce protein. So, they all have the potential to respond to a CFTR modulator. DF508 is a class II mutation and the most common one. There are many Class II variants though that could potential be treated by Trikafta and other modulators and should be screened with the available compounds.

It is incredible to be able to see with my own eyes how the advances are coming to fruition and helping so many patients! I can touch the new drugs with my hands during a lab experiment. Although they are still one touch away from benefiting my body, my cells, and my mutations and I can easily get bent out of shape with this painful truth, I remind myself many times: I only have so much control over the course of my disease. I just have to keep doing the best I can to treat my CF and to bring awareness to rare CF mutations. Sometimes I try to put the weight of the world on my shoulders and I can get overwhelmed. To combat conflicting feelings, including the "being left behind" feeling, I have been engaging in psychotherapy, focusing on the present, and remaining hopeful because there is no other way out.

Please share and spread the word because CF rare mutation patients need a hand from the CF community to avoid the feeling of being permanently left behind or excluded.


About the Author: Originally from Rio de Janeiro, Brazil, Miriam Figueira was diagnosed with CF at 13 years old and has 2 rare mutations. She is currently 32 years old and a post-doc research associate at the University of North Carolina researching how CFTR modulators affect mucus properties in CF. Miriam has a PhD and master’s degree in physiology and received her undergraduate degree in biomedical sciences. She also spent a year as a visiting student researcher at Stanford University. 

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