A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

ABSTRACT: Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disease with heterogeneous clinical manifestations. Evidence on the disease burden of ASMD is limited in Brazil. Methods: This observational, multicenter, retrospective study assessed the characteristics and clinical data of patients with ASMD type B and type A/B. Patients' demographic data were retrieved from Hospital de Clínicas de Porto Alegre between January 1, 1986 and May 31, 2021, and available medical records were collected from eight centers in Brazil. Results: The study included 124 patients (full cohort: ASMD type B [75.8%] and type A/B [24.2%]; median [interquartile range {IQR}] age: 10.0 [3.6-19.9] years at diagnosis, n = 94), while medical records were avai

SUBMITTER: Giugliani R 

PROVIDER: S-EPMC12841961 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature