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- Title
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
- Authors
Cances, Claude; Vlodavets, Dmitry; Comi, Giacomo Pietro; Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Saito, Kayoko; Zanoteli, Edmar; Dodman, Angela; El-Khairi, Muna; Gorni, Ksenija; Gravestock, Isaac; Hoffart, Janine; Scalco, Renata S.; Darras, Basil T.; the ANCHOVY Working Group; Alberti, Katia; Baranello, Giovanni; Barisic, Nina; Brolatti, Noemi; Bruno, Claudio
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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 patients achieving motor milestones. Secondary endpoints included time to initiation of respiratory and feeding support.<bold>Results: </bold>Data for 60 patients from nine countries across Asia, Europe and North and South America were analyzed. The median age (interquartile range [IQR]) for reaching death or permanent ventilation was ~ 7.3 (5.9-10.5) months. The median age (IQR) at permanent ventilation was ~ 12.7 (6.9-16.4) months and at death was ~ 41.2 (7.3-not applicable) months. No patients were able to sit without support or achieved any level of crawling, standing or walking.<bold>Interpretation: </bold>Findings from ANCHOVY were consistent with published natural history data on Type 1 SMA demonstrating the disease's devastating course, which markedly differed from risdiplam-treated infants (FIREFISH Part 2). The results provide meaningful additions to the literature, including a broader geographical representation.
- Publication
Orphanet Journal of Rare Diseases, 2022, Vol 17, Issue 1, p1
- ISSN
1750-1172
- Publication type
journal article
- DOI
10.1186/s13023-022-02455-x