Gain and loss of abilities in type II SMA: A 12-month natural history study

被引：28

作者：

Coratti, Giorgia ^{[1
,2
]}

Lucibello, Simona ^{[1
,2
]}

Pera, Maria C. ^{[1
,2
]}

Duong, Tina ^{[3
]}

Lofra, Robert Muni ^{[4
]}

Civitello, Matthew ^{[5
]}

D'Amico, Adele ^{[6
]}

Goemans, Nathalie ^{[7
]}

Darras, Basil T. ^{[8
]}

Bruno, Claudio ^{[9
]}

Sansone, Valeria A. ^{[10
]}

Day, John ^{[3
]}

Osorio, Andres Nascimento ^{[11
]}

Muntoni, Francesco ^{[12
,13
,14
]}

Montes, Jaccqueline ^{[15
,16
,17
]}

Sframeli, Maria ^{[18
,19
]}

Finkel, Richard ^{[5
]}

Mercuri, Eugenio ^{[1
,2
]}

机构：

[1] Univ Cattolica Sacro Cuore, Pediat Neurol, Rome, Italy

[2] Fdn Policlin Univ Agostino Gemelli IRCCS, Ctr Clin Nemo, Rome, Italy

[3] Stanford Univ, Dept Neurol, Stanford, CA 94305 USA

[4] Newcastle Univ, Newcastle Tyne NHS Fdn Trust, John Walton Muscular Dystrophy Res Ctr, Integrated Lab Med Directorate,Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England

[5] Univ Cent Florida, Coll Med, Nemours Childrens Hosp, Orlando, FL 32816 USA

[6] IRCCS Bambino Gesu Childrens Hosp, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy

[7] Univ Hosp Leuven, Dept Child Neurol, Leuven, Belgium

[8] Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA

[9] IRCCS Ist Giannina Gaslini, Ctr Translat & Expt Myol, Genoa, Italy

[10] Univ Milan, NEMO Clin Ctr Milan, Neurorehabil Unit, Milan, Italy

[11] Hosp Univ St Joan de Deu, Neuromuscular Unit, Neuropaediat Dept, Inst Recerca, Barcelona, Spain

[12] UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[13] Great Ormond St Hosp Sick Children, London, England

[14] NIHR Great Ormond St Hosp, Biomed Res Ctr, London, England

[15] Columbia Univ, Dept Neurol, Irving Med Ctr, New York, NY USA

[16] Columbia Univ, Dept Pediat, Irving Med Ctr, New York, NY 10027 USA

[17] Columbia Univ, Dept Rehabil & Regenerat Med, Irving Med Ctr, New York, NY USA

[18] Univ Messina, Dept Clin & Expt Med, Messina, Italy

[19] Univ Messina, Ctr Clin Nemo Sud, Messina, Italy

来源：

NEUROMUSCULAR DISORDERS | 2020年 / 30卷 / 09期

关键词：

Spinal muscular atrophy; Shift; Pattern of disease progression; Hammersmith functional motor scale expanded; Outcome measures; Neuromuscular disorders; FUNCTIONAL MOTOR SCALE;

D O I：

10.1016/j.nmd.2020.07.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The advent of clinical trials in spinal muscular atrophy (SMA) has highlighted the need to define patterns of progression using functional scales. It has recently been suggested that the analysis of abilities gained or lost applied to functional scales better reflects meaningful changes. We defined as "gain" a positive change between scores from 0 to either 1 or 2 and as "loss" a negative change from either 2 or 1 to 0. The aim of this study was to describe, over 12 months, which abilities on the Hammersmith Functional Motor Scale Expanded (HFMSE) were more frequently lost or gained in patients with SMA II. The cohort included 614 12-month assessments from 243 patients (age range: 30 months - 63 years; mean 9.94, SD +/- 7.91). The peak of abilities gained occurred before the age of 5 years while the highest number of lost abilities was found in the group 5-13 years. A correlation between the HFMSE baseline score and the ordinal number of the items was found for both lost (p<0.001) or gained (p<0.001) activities. No correlation was found with SMN2 copy number. These findings will have implications for clinical trial design and for the interpretation of real-world data using new therapeutic approaches. (C) 2020 Elsevier B.V. All rights reserved.

引用

页码：765 / 771

页数：7

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