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 similar to 7.3 (5.9-10.5) months. The median age (IQR) at permanent ventilation was similar to 12.7 (6.9-16.4) months and at death was similar to 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.

Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study / C. Cances, D. Vlodavets, G.P. Comi, R. Masson, M. Mazurkiewicz-Bełdzińska, K. Saito, E. Zanoteli, A. Dodman, M. El-Khairi, K. Gorni, I. Gravestock, J. Hoffart, R.S. Scalco, B.T. Darras. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 17:1(2022 Jul), pp. 300.1-300.11. [10.1186/s13023-022-02455-x]

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

G.P. Comi;
2022

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 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 similar to 7.3 (5.9-10.5) months. The median age (IQR) at permanent ventilation was similar to 12.7 (6.9-16.4) months and at death was similar to 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.
ANCHOVY; FIREFISH; SMA natural history; Spinal muscular atrophy; Type 1 SMA; Asia; Europe; Humans; Infant; Retrospective Studies; Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/944649
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