Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study).
Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study).
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DOI：
10.1007/s40120-020-00229-w
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发表时间：
2021-06
影响因子：
3.7
通讯作者：
Maurino J
中科院分区：
文献类型：
--
作者：
Madruga-Garrido M;Vázquez-Costa JF;Medina-Cantillo J;Brañas M;Cattinari MG;de Lemus M;Díaz-Abós P;Sánchez-Menéndez V;Terrancle Á;Rebollo P;Maurino J
有必要优化目前在脊髓性肌萎缩症（SMA）的临床结果测量纳入患者和护理者的观点。本研究的目的是评估一组现有问卷和新创建的“工具箱”项目的心理测量特性（效度，信度和变化敏感性），以评估SMA对患者生活的身体，心理和日常生活领域活动的影响。这项非介入性的前瞻性研究将在西班牙12家专门管理SMA患者的神经肌肉诊所进行。一个由儿科和成人神经科医生、康复医生和一名患者代表组成的专家小组参与了研究设计，并选择了关键的疾病维度来探索及其各自的测量：活动独立性、疲劳和耐力、疼痛、疲劳、呼吸和声音、睡眠和休息以及易感性。将招募年龄在2岁或以上、确诊为5q常染色体隐性SMA的患者（基因证实纯合缺失或杂合性可预测SMN1基因功能丧失）。与患者社区合作制定强有力的结果衡量标准对于确定什么对患者及其护理人员有意义至关重要。这项研究将为我们提供一套全面的工具，以更好地捕捉疾病的过程和对治疗的反应。
There is a need to optimize the current clinical outcome measures in spinal muscular atrophy (SMA) incorporating patients’ and caregivers’ perspectives. The aim of this study is to evaluate the psychometric properties (validity, reliability and sensitivity to change) of a set of existing questionnaires and newly created items grouped in a “toolbox” to assess the impact of SMA on the physical, psychological and activities of daily living domains of the patient’s life. This non-interventional, prospective study will be conducted at 12 neuromuscular clinics specialized in the management of patients with SMA in Spain. An expert panel of pediatric and adult neurologists, rehabilitation physicians, and a patient representative participated in the study design and selected key disease dimensions to explore and their respective measurements: mobility-independence, fatigue and endurance, pain, fatigability, breathing and voice, sleep and rest, and vulnerability. Patients aged 2 years or older with a confirmed diagnosis of 5q-autosomal recessive SMA (genetic confirmation of homozygous deletion or heterozygosity predictive of loss of function of the SMN1 gene) will be recruited. The development of robust outcome measures in collaboration with the patient community is essential to determine what is meaningful to patients and their caregivers. This study will provide us with a comprehensive set of tools to better capture the course of the disease and the response to treatments.
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影响因子：
9.9
作者：
Cella, D.;Lai, J-S.;Moy, C.
通讯作者：
Moy, C.
影响因子：
9.3
作者：
Naidoo, Nivantha;Nguyen, Van Thu;Boutron, Isabelle
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影响因子：
3.2
作者：
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通讯作者：
Jarecki, Jill
影响因子：
3.3
作者：
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通讯作者：
Hagenacker, T.
影响因子：
2.4
作者：
Kolb, Stephen J.;Kissel, John T.
通讯作者：
Kissel, John T.