Psychological impact of genetic eligibility for CFTR modulator therapy in children with cystic fibrosis and their parents.

Cystic fibrosis (CF) is a genetic disorder with significant physical and psychological impacts. CFTR modulators (CFTRm) have transformed CF care. Although CFTRm have transformed CF care, genetic eligibility creates distinct patient experiences. This study evaluates the psychological impact of genetic CFTRm eligibility status on children with CF and their caregivers. This cross-sectional study included 118 children with CF and their primary caregivers. Psychological assessments were performed by the child psychiatry team. Children completed the Child Attitude Toward Illness Scale (CATIS), Brief Illness Perception Questionnaire (BIPQ-Patient), and Children's Hope Scale (CHS). Caregivers completed the Beck Hopelessness Scale (BHS), Strengths and Difficulties Questionnaire (SDQ), and BIPQ-Caregiver. Clinical and demographic data were collected, and analyses were stratified according to CFTRm genetic eligibility and the presence of bronchiectasis. Among participants, 53.39% (n = 63) were genetically eligible for CFTRm, while only 35.59% (n = 42) were actively receiving treatment. Genetically eligible children demonstrated higher levels of hope and a more positive perception of their illness compared with genetically ineligible children. Among patients without bronchiectasis, psychological outcomes did not differ between eligibility groups. In contrast, among those with bronchiectasis, modulator-eligible children reported greater hope and more positive attitudes toward their disease, and their mothers also reported higher levels of hope.

conclusionGenetic eligibility for CFTRm is associated with meaningful differences in psychological well-being among children with CF, particularly in those with more advanced lung disease. These findings suggest that eligibility status itself may function as a psychosocial determinant and should be considered when delivering patient-centered care for children with CF and their families. WHAT IS KNOWN: • CF is associated with increased psychological burden in both children and their caregivers. • Although CFTR modulators have transformed cystic fibrosis care, access remains limited, and real-world use may be affected by factors such as genetic eligibility, treatment adherence, and potential adverse effects. WHAT IS NEW: • Children with CF who are genetically eligible for CFTR modulator therapy-particularly those with advanced lung disease-report higher levels of hope, more positive attitudes toward their illness, and lower perceived illness threat than ineligible peers.