P532: Impact of Brazilian rare disease policy on inborn errors of metabolism and lysosomal storage disorders: Time-series and predictive modeling analysis
Abstract
Rare diseases (RD), such as Inborn Errors of Metabolism (IEM) and Lysosomal Storage Diseases (LSD), represent a significant burden on large-scale healthcare systems. In 2014, Brazil instituted the National Policy for Comprehensive Care for People with Rare Diseases (PNARD) to structure diagnosis and management within the Unified Health System (SUS). This study aims to quantify the longitudinal impact of the PNARD on IEM/LSD morbidity and mortality trends, focusing on the assessment of geographic disparities and predictive modeling of future healthcare burden.
Fields of Study & Subjects
Metabolism and Genetic Disorders
Lysosomal Storage Disorders Research
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104024–104024
- Publication date
- 1 January 2026
- Language
- EN