Cystic Fibrosis: Genomic Stratification & Precision Care Pathways
Cystic fibrosis (CF) stems from pathogenic variants in the CFTR gene, leading to viscous secretions and multi-organ complications. This dossier synthesizes genotype-driven therapies, regional prevalence data, and multidisciplinary care models for global stakeholders.
Global Incidence
~70,000
People living with CF across 90+ countries
Variant Spectrum
2,100+
CFTR variants curated with pathogenicity classifications
Therapy Access
68%
Eligible patients accessing modulator therapy in 2024
Genotype-Driven Classification
We classify CFTR variants by functional impact across six classes, aligning with responsive therapies. Class II variants such as F508del remain most prevalent globally, while unique founder mutations appear in Middle Eastern and South Asian cohorts.
- • Variant heatmaps updated quarterly with ClinVar feeds.
- • Functional assays indexed from PubMed and CFTR2 studies.
- • Population-specific allele frequencies from gnomAD and national registries.
Therapeutic Pipeline Highlights
CFTR Modulators
Trikafta demonstrates FEV1 improvements across ages ≥2. Ongoing trials explore triple-combination efficacy for rare nonsense variants with read-through agents such as ELX-02.
Gene and mRNA Therapy
Lipid nanoparticle mRNA delivery platforms from Arcturus and Vertex/Moderna progress to phase 2, targeting patients ineligible for modulators.
Integrated Care Models
CF centers of excellence combine respiratory physiotherapy, pancreatic enzyme replacement, and psychosocial support. Telehealth adoption expanded during the pandemic, sustaining adherence and mental health check-ins for remote communities.
- • Remote spirometry programs across Australia and Canada.
- • Nutritional genomics pilots to tailor high-calorie regimens.
- • Transition protocols for adolescent to adult care in Brazil and Poland.