Patients Not Eligible for Modulator Therapy Speak Out in Survey

Marisa Wexler MS avatar

by Marisa Wexler MS |

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For people with cystic fibrosis (CF) who are not eligible for treatment with a CFTR modulator, seeing other patients benefit from these new therapies is “both uplifting and disheartening,” according to a new study.

“Although most are happy for those who are benefiting from modulators, they are eager for the opportunity to experience similar improvements for themselves, and willing to participate in clinical trials of new therapies,” the researchers wrote.

Approximately 10% of CF patients can not use or lack access to CFTR modulators and “have only symptomatic treatments available,” the team noted.

The study, “A Survey: Understanding the Health and Perspectives of People with CF Not Benefiting from CFTR Modulators,” was published in the journal Pediatric Pulmonology.

CFTR modulators are a group of recently developed therapies that target the underlying cause of CF and can increase the functionality of the defective CFTR protein in people with specific disease-causing mutations.

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While modulators can substantially benefit patients who can take them, about one in 10 people with CF is not eligible for these medications because of their underlying mutation.

Now, U.S.-based researchers conducted a survey to understand the perspectives of these patients. The survey was distributed in 2021 through the study’s funder, Emily’s Entourage, a nonprofit dedicated to advancing research on treatments for CF caused by nonsense foda-semutations. This class of mutations is not eligible for CFTR modulator treatment.

The survey was answered by 431 people, most of whom were parents of CF patients or adults with the disease. Among the respondents, more than two-thirds were from the U.S., greater than 80% were White, and about 60% were women.

Most of the patients were ineligible for treatment with CFTR modulators due to their underlying mutation. Other reasons also were noted, including lung transplant, CF liver disease, intolerable side effects, age ineligibility, and lack of access.

Based on measurements of lung function, most patients had moderate (50.3%) to severe (11.1%) disease. Nonetheless, just over half of patients rated their overall mental and physical health as good to excellent.

The most commonly reported CF symptoms included gastrointestinal issues (64.7%), excessive cough (53.9%), fatigue (50.9%), shortness of breath (40.1%), mental health difficulties (34.7%), chest tightness (33.8%), and chronic pain (18%). Most were receiving symptomatic treatments.

More than half (55.1%) of the patients reported spending at least one night in the hospital every year due to CF, and 13.8% said they spent at least five nights in the hospital every year.

The aspects of life most impacted by CF, according to patients, were mental health (45.5%), plans for the future (45.2%), and the ability to spend time doing social activities with friends and family (39.7%). The vast majority of both patients and caregivers agreed that CF also has a substantial effect on family members of those with the disease.

“The majority of respondents had moderate to severe disease, and consequently, the therapeutic burden that they reported was required to maintain their health was substantial and expected,” the researchers wrote.

“Importantly, respondents were clear that beyond the burden of disease … the psychosocial impacts of living with CF for people with CF and for their caregivers are profound,” they added.

Of 292 respondents who answered a question about participating in clinical trials, 76.7% said they would be interested in participating, and only 4.1% were definitely not interested. The rest were unsure. The researchers noted that respondents outside the U.S. frequently noted a lack of access to clinical trials.

The survey respondents also had the opportunity to answer a free-response question about how it feels to see others in the CF community benefit from modulator therapy when they are unable to do so.

“Most felt happy and excited for those who were benefitting,” the researchers reported.

Nonetheless, other recurring themes included “bitter sweet,” “envious,” “sad,” “frustrating,” “disappointing,” “angry,” “worried,” and “left behind.”

From the collective results, the researchers concluded that “the psychological impact of the burden and worry that having CF has on daily life has been compounded by the differential access to life-changing therapies available to many but not all people with CF.”

“Although most are happy for those who have benefited from modulators, the current therapeutic environment has left them feeling scared, forgotten and neglected. … Partnership between CF basic scientists, clinical investigators, biopharmaceutical companies, advocacy organizations, regulators and the community is essential to ensure that therapies are developed expeditiously and are accessible for all with CF,” the researchers concluded.