Saito Kayoko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor (Fixed Term) |
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Article types | Original article |
Language | English |
Peer review | Peer reviewed |
Title | Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study. |
Journal | Formal name:Orphanet journal of rare diseases Abbreviation:Orphanet J Rare Dis ISSN code:17501172/17501172 |
Domestic / Foregin | Foregin |
Volume, Issue, Page | 17(1),pp.300 |
International coauthorship | International coauthorship |
Author and coauthor | 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, |
Publication date | 2022/07 |
Summary | 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 patients achieving motor milestones. Secondary endpoints included time to initiation of respiratory and feeding support.RESULTS: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.INTERPRETATION: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. |
DOI | 10.1186/s13023-022-02455-x |
PMID | 35906608 |