Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal Muscular Atrophy

被引：2

作者：

Becker, Lena-Luise ^{[1
,2
,3
]}

Weiss, Claudia ^{[2
]}

Guenther, Rene ^{[4
,5
]}

Hermann, Andreas ^{[4
,6
,7
]}

Theophil, Manuela ^{[8
]}

Huebner, Angela ^{[9
]}

Smitka, Martin ^{[10
]}

von der Hagen, Maja ^{[10
]}

Kaindl, Angela M. ^{[1
,2
,3
]}

机构：

[1] Charite, Dept Pediat Neurol, Berlin, Germany

[2] Charite, Ctr Chron Sick Children, Berlin, Germany

[3] Charite Univ Med Berlin, Inst Cell Biol & Neurobiol, Berlin, Germany

[4] Tech Univ Dresden, Med Fak Carl Gustav Carus, Dept Neurol, Dresden, Germany

[5] Deutsch Zentrum Neurodegenerat Erkrankungen DZNE, Dresden, Germany

[6] Univ Rostock, Univ Med Ctr Rostock, Dept Neurol, Translat Neurodegenerat Sect, Rostock, Germany

[7] German Ctr Neurodegenerat Dis DZNE Rostock, Rostock, Germany

[8] DRK Kliniken Berlin Westend, Dept Pediat Neurol, Berlin, Germany

[9] Tech Univ Dresden, Dept Pediat, Med Fak Carl Gustav Carus, Dresden, Germany

[10] Tech Univ Dresden, Med Fak Carl Gustav Carus, Dept Pediat Neurol, Dresden, Germany

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2022年 / 20卷 / 04期

关键词：

spinal muscular atrophy; nusinersen; endocrinological data; anthropometric data; side effects; weight; GLUCOSE-METABOLISM; BODY-COMPOSITION; SHAM CONTROL; MANAGEMENT; DIAGNOSIS; CHILDREN; DEFECTS;

D O I：

10.1055/s-0041-1731395

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Nusinersen is the first disease-modifying therapy for spinal muscular atrophy (SMA), but there are few data on potential long-term endocrinological andmetabolic systemic effects of this novel treatment as well as metabolic alterations in SMA itself. In this retrospective and multicentric study, we analyzed anthropometric, endocrinological, and motor function data of 81 pediatric and adult patients with SMA1 to 3 undergoing treatment with nusinersen. In 39 patients (51%), we observed a slight increase in body mass index (BMI) centiles under treatment with nusinersen, especially in patients with SMA2 and in pediatric patients between 3.1 and 12 years. A correlation to the SMN2 copy number or motor function was not found. Additionally, length centiles decreased significantly under treatment. The results of longitudinal endocrinological assessments were interpreted as not clinically significant in most patients; in three patients, the signs of an altered glucose metabolism were present. Our study indicates a putative effect of treatment with nusinersen on BMI, which might be due to a conjoint effect of weight gain and reduction of height velocity, without evidence of correlation to increased muscle function. Further studies need to address specific effects of targeted therapies such as nusinersen or onasemnogene abeparvovec on body composition including fat and muscle mass.

引用

页码：252 / 257

页数：6

共 22 条

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