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

To evaluate the prevalence of ineligibility for Elexacaftor/Tezacaftor/Ivacaftor (ETI) and Ivacaftor (IVA) and to compare data from four centers in Brazil, considering the racial/ethnic background of each population.

This cross-sectional study used data from the Brazilian Cystic Fibrosis (CF) Registry. Individuals with a confirmed diagnosis of CF by the identification of two variants in the CFTR gene and/or elevated sweat chloride levels were included. Variables studied were treatment center, age at diagnosis, current age, sex, race/ethnicity, genotype, and ineligibility for ETI and IVA. The chi-square test compared the distribution of race/ethnicity across centers and associations between ineligibility, treatment center, and the presence of the 3120 + 1 G > A variant. Binary logistic regression was applied to assess the strength of association between the main variables.

Six hundred forty-nine individuals were included, with a median age at diagnosis and current age of 0.25 and 11.6 years, respectively. One hundred thirty-eight participants (21.26%) were ineligible for ETI or IVA. Racial/ethnic distribution varied across centers, in the total sample, and among ineligible individuals. Non-White individuals were 20% more likely to be ineligible than White individuals. The ineligibility for ETI did not vary significantly among the centers.

The ineligibility for ETI was high across all analyzed regions, but was not different among the centers. In Brazil, characterized by widespread admixture, the public health policies must consider the genotypic heterogeneity and wide variation in ancestry of the Brazilian population.