Acid sphingomyelinase deficiency in France: a retrospective survival study.

ABSTRACT:

Background

Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a need to increase the understanding of morbidity and mortality across children to adults diagnosed with ASMD.

Methods

This observational retrospective survey analysed medical records of patients with ASMD with retrievable data from 27 hospitals in France, diagnosed/followed up between 1^st January 1990 and 31^st December 2020. Eligible records were abstracted to collect demographic, medical/developmental history, and mortality data. Survival outcomes were estimated from birth until death using Kaplan-Meier survival analyses;

SUBMITTER: Mauhin W 

PROVIDER: S-EPMC11301966 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature