サイトウ　カヨコ   Saito Kayoko   齋藤　加代子    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
掲載誌名	正式名：Orphanet journal of rare diseases 略　 称：Orphanet J Rare Dis ISSNコード：17501172/17501172
掲載区分	国外
巻・号・頁	17(1),pp.300
国際共著	国際共著
著者・共著者	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,
発行年月	2022/07
概要	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