OBJECTIVES

: In Brazil, the scarcity of data describing Fabry Disease patients yields a high level of uncertainty in economic estimates regarding public policy for the disease. This analysis aims to provide demographic information on Brazilian Fabry Disease patients in order to support public policy decision-making processes.

METHODS

: We present data collected in the Fabry Registry (NCT00196742, sponsor: Sanofi Genzyme) for patients in Brazil and in the rest of the world. We characterize patient distribution by phenotype, gender, age, as well as weight and height at baseline. Phenotyping data uses the Fabry Disease Genotype-Phenotype database (dbFGP) for classification. Benign, unconfirmed, or unknown variants, as well as those missing or with non-standardized genotypes, were reported as ‘Other’.

RESULTS

: As of November 2019, there were a total of 294 enrolled patients in Brazil (111 male and 183 female) and 6,933 (3,309 male and 3,894 female) in the rest of the world. In Brazil, 51 (45.9%) of males were classic patients and 11 (9.9%) males had mutations consistent with later-onset phenotypes. Among female patients in Brazil, 84 (45.9%) patients had a classic phenotype and 22 (12.0%) were later-onset. The rest of the patients were registered as Other phenotypes. The phenotype distribution was similar for patients in the rest of the world.

Mean (SD) age (years) at diagnosis in Brazil was 33.5 (17.23) and 32.5 (18.73) in the rest of the world. Mean weight (kg) was 65.0 (14.63) for men and 66.9 (17.62) for women in Brazil and 67.0 (19.70) for men and 72.1 (20.30) for women in the rest of the world.

CONCLUSIONS

: Phenotype distribution was similar for all enrolled patients in Brazil and the rest of the world. Male patients had a lower weight on average than female patients in both Brazil and the rest of the world.