Cystic fibrosis transmembrane conductance regulator modulator therapy and lived experiences in South Africa: A mixed-methods study.

BACKGROUND

Cystic fibrosis transmembrane conductance regulator modulator (CFTRm) therapy has transformed cystic fibrosis (CF) outcomes in high-income settings, yet access remains severely limited in South Africa. Patient-reported outcomes of CFTRm are underexplored.

OBJECTIVES

To describe the lived experiences of South African people living with cystic fibrosis (PLwCF) following CFTRm initiation, focusing on respiratory symptoms, treatment burden, physical activity, social and recreational participation, and well-being.

METHOD: A convergent mixed-methods design incorporated an online survey (n = 37; 48% response rate) and semi-structured interviews (n = 6) with PLwCF aged > 6 years. Chi-square and Fisher's exact tests compared pre- and post-CFTRm responses; qualitative data underwent inductive thematic analysis.

RESULTS

Participants reported dramatic improvements from pre- to post-CFTRm: daily distressing respiratory symptoms decreased from 73% to 6% (p < 0.0001); perceived therapy burden shifted from predominantly high (78%) to predominantly low burden (87%), with a similar decline in duration of respiratory treatment: before CFTRm, 63% of participants spent > 1 h per day on respiratory treatment compared to 14% after CFTRm (p < 0.0001); regular exercise increased from 62% to 92% (p = 0.04); frequent social participation from 22% to 49% (p = 0.006); and perceived excellent health increased from 5% to 65% (p < 0.0001). Ten qualitative themes emerged: (1) respiratory health transformation, (2) reduced treatment burden, (3) normalisation of daily life, (4) enhanced physical capacity and participation, (5) profound psychosocial and (6) family impact, (7) improved nutrition, (8) reduced hospitalisations, (9) improved energy, and (10) altruistic hope for universal access.

CONCLUSION

Cystic fibrosis transmembrane conductance regulator modulator profoundly transforms the lived experiences of South African PLwCF providing compelling evidence to advocate for equitable access in resource-limited settings.

CLINICAL IMPLICATIONS: National funding and rollout of CFTRm for all eligible PLwCF in South Africa are urgently needed, together with interdisciplinary support to navigate modifications to existing care regimens.