CFTR Modulators in Brazil: Not for Everyone-A Comparison of Ineligibility Across Different Regions.

Area of Science:

• Medical Genetics
• Public Health
• Pharmacogenomics

Background:

• Cystic Fibrosis (CF) affects individuals globally, with treatment eligibility varying based on genetic factors.
• Elexacaftor/Tezacaftor/Ivacaftor (ETI) and Ivacaftor (IVA) are crucial CFTR modulator therapies.
• Brazil's diverse population presents unique challenges in assessing treatment accessibility.

Purpose of the Study:

• To determine the prevalence of ineligibility for ETI and IVA in Brazil.
• To compare ineligibility rates across four Brazilian CF centers.
• To analyze the influence of racial/ethnic background on treatment ineligibility.

Main Methods:

• Cross-sectional study utilizing data from the Brazilian CF Registry.
• Inclusion criteria: confirmed CF diagnosis via CFTR gene variants and/or elevated sweat chloride.
• Statistical analyses included chi-square tests and binary logistic regression.

Main Results:

• 649 individuals were analyzed; 21.26% were ineligible for ETI or IVA.
• Racial/ethnic distribution varied significantly across centers and among ineligible individuals.
• Non-White individuals showed a 20% higher likelihood of ineligibility compared to White individuals.

Conclusions:

• Ineligibility for ETI was consistently high across Brazilian regions, irrespective of the treatment center.
• Genotypic heterogeneity and diverse ancestry in Brazil necessitate tailored public health policies for CF treatment.
• Addressing racial/ethnic disparities is crucial for equitable access to CFTR modulator therapies.