CFTR modulators for cystic fibrosis bring hope and stability to young adult patients

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 monocentric American study.

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

These early findings could serve as a springboard for future work on the experiences of adults with cystic fibrosis on CFTR modulators and how these therapies influence 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 starting the modulators,” the researchers wrote, noting that “optimism was overwhelmingly attributed to the CFTR modulators.”

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The study, “Lived Experiences of People with CF on CFTR Modulatorswas published in the journal BMC pulmonary medicine.

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

CFTR modulators act by correcting the functional defect of the CFTR protein, caused by CFTR changes. Prior to their emergence, treatment for cystic fibrosis “targeted the symptoms of the disease rather than the underlying mechanism causing the disease,” the researchers wrote.

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

Although their positive effect on lung function, body weight and the frequency of sudden episodes of disease worsening in patients with cystic fibrosis has been well established in previous clinical trials, there is limited evidence of their influence outside of clinical health parameters.

To address this issue, researchers from Case Western Reserve University and TriHealth, Ohio conducted semi-structured interviews with eight young adults with cystic fibrosis to assess how the introduction of CFTR modulators affected the psychological and social aspects of their life.

All the patients – four men and four women, aged 20 to 35 – were recruited from a single adult cystic fibrosis center. Two were single, while the other participants were in a relationship or married. They had received at least six months of treatment with an approved CFTR modulator, most often Symdeko.

Since the study took place in 2018, before Trikafta was approved in the United States, none of the patients had received this therapy.

The interviews, conducted by telephone, lasted an average of 30 minutes and covered the following topics: health, career, relationships, family planning and psychological functioning.

Subsequent analysis of the interview transcripts, which were stripped of participant identities, revealed four main themes—hope, stability, identity, and potentiality—that were intertwined in an overlaid fashion.

The most prominent theme was hope, with patients expressing a “general sense of hope which they attributed primarily to the CFTR modulator they were prescribed as well as to the advancement of medical research,” the researchers wrote. .

Hope turned out 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 viewing themselves as stable and others citing the therapies as “a source of hope for eventually become stable,” the team wrote.

Although the patients’ lung function did not change dramatically with treatment, they reported stabilization or improvements that had not been achieved before starting CFTR modulators.

“As my energy level increased, my lung function increased to, uh, the highest in five years,” said one male patient in the study.

One participant said the therapy made her “quite confident” about her lung function.

“It’s a lot better like I said, it’s kind of like I see him as a cushion. I feel like his support is keeping me…keeps me from falling. Uh, and I can… I do… my lungs feel so much better on it and stuff. 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 beginning to see themselves more as a “person” than a “patient” in many aspects of their lives — and that these therapies helped them feel more able to work and be present in their relationships.

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

“I started a new job and I’m not afraid to tell my boss I have cystic fibrosis anymore, am I? Like I didn’t need to be like, “Hey, I have cystic fibrosis and I could be in the hospital and stuff like that for a while.” Because I haven’t been to the hospital for a year, right? he said, adding, “I told my employer I have CF, but it’s not like…it’s not my identity.

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

Participants also said that CFTR modulators made them feel that they would potentially have the ability to achieve specific goals in their lives that they had not thought 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 they wanted to achieve expressed hope that their CFTR modulator would “keep them healthy enough to eventually develop goals for their lives,” the team wrote.

“It’s encouraging because I’ve gotten older, you know, to see the progress with the meds and to be on this one and to be so stable for so long,” one patient said.

Additionally, some participants reported less frequent episodes of anxiety or depression, whether 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 influence psychological and emotional health as well as social functioning and personal goal achievement in those with CF.” of CF,” the researchers wrote.

Thus, these findings “could 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 empower patients. appropriate resources or referrals to deal with psychosocial changes or achieve their goal. 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 could also follow patients over time to understand if these therapeutic effects change over time, and include children with cystic fibrosis, which may generate different psychosocial themes in young adults.

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