Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
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DOI：
10.1002/acn3.51281
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发表时间：
2021-03
影响因子：
5.3
通讯作者：
NatHis-SMA study group
中科院分区：
文献类型：
--
作者：
Annoussamy M;Seferian AM;Daron A;Péréon Y;Cances C;Vuillerot C;De Waele L;Laugel V;Schara U;Gidaro T;Lilien C;Hogrel JY;Carlier P;Fournier E;Lowes L;Gorni K;Ly-Le Moal M;Hellbach N;Seabrook T;Czech C;Hermosilla R;Servais L;NatHis-SMA study group
使用可穿戴设备等创新措施，描述24个月来脊髓性肌萎缩症(SMA)的自然病史，并为这些措施的敏感性提供证据，以确定它们作为临床试验终点的适宜性。对未接受疾病调整治疗的2型和3型SMA患者(N=481)进行了为期24个月的评估：运动功能(运动功能测量[MFM])、上肢力量(MyoGlip、MyoPink)、上肢活动(ActiMyo®)、定量磁共振成像(脂肪分数[FFT2]标测和收缩横截面积[C-CSA])、肺功能(用力肺活量[FVC]、最大咳嗽流量、最大呼气压、最大吸气压和鼻腔吸气压)以及运动神经元存活(SMN)蛋白水平。MFM32得分在24个月内显著下降，但不是12个月。上肢活动的变化可以在6个月内检测到，并在12个月内继续显著减少，但不是24个月。上肢力量在12个月和24个月内显著下降。FVC在12个月内显著下降，但不是24个月。FFT2在12个月和24个月期间有所增加，尽管没有统计学意义。C-CsA在12个月时显著增加，但不是24个月。血SMN蛋白水平在12个月和24个月期间保持稳定。这些数据表明，MFM32、MyoGlip、MyoPint和ActiMyo®能够在12或24个月内检测到2型和3型SMA患者的显著下降。
To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as endpoints in clinical trials. Patients with Type 2 and 3 SMA (N = 81) with varied functional abilities (sitters, nonsitters, nonambulant, and ambulant) who were not receiving disease‐modifying treatment were assessed over 24 months: motor function (Motor Function Measure [MFM]), upper limb strength (MyoGrip, MyoPinch), upper limb activity (ActiMyo®), quantitative magnetic resonance imaging (fat fraction [FFT2] mapping and contractile cross‐sectional area [C‐CSA]), pulmonary function (forced vital capacity [FVC], peak cough flow, maximum expiratory pressure, maximum inspiratory pressure, and sniff nasal inspiratory pressure), and survival of motor neuron (SMN) protein levels. MFM32 scores declined significantly over 24 months, but not 12 months. Changes in upper limb activity could be detected over 6 months and continued to decrease significantly over 12 months, but not 24 months. Upper limb strength decreased significantly over 12 and 24 months. FVC declined significantly over 12 months, but not 24 months. FFT2 increased over 12 and 24 months, although not with statistical significance. A significant increase in C‐CSA was observed at 12 but not 24 months. Blood SMN protein levels were stable over 12 and 24 months. These data demonstrate that the MFM32, MyoGrip, MyoPinch, and ActiMyo® enable the detection of a significant decline in patients with Type 2 and 3 SMA over 12 or 24 months.
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影响因子：
64.5
作者：
LEFEBVRE, S;BURGLEN, L;MELKI, J
通讯作者：
MELKI, J
影响因子：
158.5
作者：
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通讯作者：
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影响因子：
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作者：
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影响因子：
3.7
作者：
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通讯作者：
Servais L
影响因子：
9.9
作者：
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通讯作者：
Servais, Laurent