Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.

ABSTRACT:

Background

ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH (NCT02913482) interventional study of risdiplam treatment in Type 1 SMA.

Methods

Data were extracted from medical records of patients with first symptoms attributable to Type 1 SMA between 28 days and 3 months of age, genetic confirmation of SMA, and confirmed survival of motor neuron 2 copy number of two or unknown. The study period started on 1 January 2008 for all sites; study end dates were site-specific due to local treatment availabilities. Primary endpoints were time to death and/or permanent ventilation and proportion of pati

SUBMITTER: Cances C 

PROVIDER: S-EPMC9336055 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature