CFTR Modulators Bring Hope, Stability to Young Adults With CF

Marta Figueiredo, PhD avatar

by Marta Figueiredo, PhD |

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The introduction of CFTR modulators — a type of disease-modifying treatment for cystic fibrosis (CF) caused by specific mutations — has brought a general sense of hope to the lives of young adults with the disease, according to a small single-center U.S. study.

Notably, patients reported greater physical health stability, which allowed them to work on their careers and relationships or to set goals in those areas that previously seemed impossible.

These early findings may serve as a stepping stone for future work on the experiences of adults with CF on CFTR modulators and how these therapies influence the psychosocial aspects of their lives, the researchers noted.

“It was clear that these participants felt optimistic and hopeful in their ability to achieve their goals since beginning the modulators,” the researchers wrote, noting that “the optimism was overwhelmingly attributed to CFTR-modulators.”

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The study, “Lived experiences of individuals with cystic fibrosis on CFTR-modulators,” was published in the journal BMC Pulmonary Medicine.

CF is caused by mutations in both copies of the CFTR gene, which provides instructions to produce a protein channel of the same name that controls the flow of chloride ions (salt) and water through cells.

CFTR modulators work by correcting the CFTR protein’s functional defect, caused by specific CFTR mutations. Before their emergence, CF treatment “targeted the symptoms of the disease rather than the underlying disease-causing mechanism,” the researchers wrote.

About 85–90% of CF patients are eligible for one the four currently available CFTR modulators: Kalydeco (ivacaftor), Orkambi (ivacaftor/lumacaftor), Symdeko (ivacaftor/tezacaftor), and Trikafta (elexacaftor/tezacaftor/ivacaftor).

While their positive effect on CF patients’ lung function, weight, and frequency of sudden episodes of disease worsening has been well-established in previous clinical trials, there is limited evidence on their influence outside of clinical health parameters.

To address this, researchers at Case Western Reserve University and TriHealth, in Ohio, conducted semi-structured interviews with eight young adults with CF to evaluate how the introduction of CFTR modulators affected the psychological and social aspects of their lives.

All of the patients — four men and four women, with ages ranging from 20 to 35 — were recruited from a single adult CF center. Two were single, while the remaining participants were in a relationship or married. They had received at least six months of treatment with an approved CFTR modulator, most commonly Symdeko.

Since the study took place in 2018, before the approval of Trikafta in the U.S., none of the patients had received this therapy.

Interviews, conducted over the phone, lasted an average of 30 minutes, and covered the following topics: health, career, relationships, family planning, and psychological functioning.

Subsequent analysis of the interviews’ transcripts, which were stripped of the participants’ identities, revealed four main themes — hope, stability, identity, and potentiality — that were related to each other in an overlapping manner.

The most prominent theme was hope, with patients expressing an “overall feeling of hope that they mainly attributed to the CFTR-modulator that they were prescribed as well as advancing medical research,” the researchers wrote.

Hope was found to be at the center of these interviews, being linked to the other three themes.

Consistent with clinical trial data, participants reported a sense of physical health stability — often including improvements — with CFTR modulators, with some considering themselves as stable and others citing the therapies as “a source of hope to eventually become stable,” the team wrote.

While patients’ lung function had not changed dramatically with treatment, they reported stabilization or improvements that were not achieved before starting on the CFTR modulators.

“Like my energy level increased, my pulmonary function increased, um, to the highest it’s been in five years,” said one male patient in the study.

One female participant said therapy had made her “pretty confident” about her lung function.

“It’s a lot better like I said it’s kind of like I see it as a cushion. I feel like its support that’s keeping me… keeping me from falling. Um, and I can… I do… my lungs feel so much better on it and everything. And that definitely gives me hope,” she said in an interview.

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In terms of identity, some participants said they felt they were starting to see themselves more like a “person” than a “patient” in several aspects of their lives — and that these therapies helped them to feel more capable of working and being present in their relationships.

One man said in his interview that he felt well enough to go to work full time.

“I started a new job and I don’t have a fear to tell my boss that I have cystic fibrosis anymore, right? Like I don’t have to be like: ‘hey I have cystic fibrosis and I might be out in the hospital and stuff like that for a while’. Because I haven’t been in the hospital in a year, right?” he said, adding, “I have told my employer I have CF but it’s not like… it’s not my identity.”

Some patients “expressed hope that someday CF would not be the only thing that defines them,” the researchers wrote.

Participants also said that CFTR modulators allowed them to feel that they would potentially have the ability to achieve specific goals in their lives that they had not deemed possible before treatment. Some of these goals included starting a career or a romantic relationship and pursuing a biological family.

Those who did not describe specific goals that they wanted to achieve expressed hope that their CFTR modulator “would keep them healthy enough to eventually develop goals for their life,” the team wrote.

“It is encouraging as I’ve gotten older, you know, to see the progress with the drugs and being on this one and being so stable for so long,” one female patient said.

Moreover, some participants reported less frequent episodes of anxiety or depression, whether it was related to financial issues, life expectancy, or the progressive nature of the disease.

While these preliminary results cannot be generalized to all CF patients, they provide evidence that CFTR modulators “may have an influence on psychological and emotional health as well as social functioning and personal goal fulfillment for individuals with CF,” the researchers wrote.

Thus, these findings “may have implications for CF care teams,” they wrote, adding that more emphasis should be placed on this type of discussion so that healthcare providers can better give appropriate resources or referrals for patients to cope with psychosocial changes or achieve their new life goals.

Larger studies including patients treated with the most recently approved CFTR modulator, Trikafta, are needed to confirm these findings, the team noted.

Future studies also could follow patients over time to understand whether such therapy effects change with time, and include children with CF, who may generate different psychosocial themes from young adults.

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