Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials.
Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials.
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DOI：
10.1002/ajmg.c.30217
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发表时间：
2009-08-15
影响因子：
3.1
通讯作者：
Carey, John C.
中科院分区：
文献类型：
--
作者：
Stevenson, David A.;Carey, John C.
医学遗传学领域正在迅速发展，治疗遗传综合征的治疗方法也越来越多。对各种遗传疾病病理生理学的理解为研究人员提供了在临床前小鼠模型中提出和测试药理学药物的机会，并希望将其转化为人体试验。临床试验的开发可能是昂贵和耗时的，特别是对于罕见的疾病。在设计遗传性疾病的临床试验时，应进行初步可行性研究。在临床试验的实施中，制定和选择适当的结果指标尤为重要。选择不适当的结果测量方法可能导致无法测量的差异或临床不显著的结果。此外，正如需要采取适合年龄的措施一样，一些工具可能不适用于具有显著认知和身体损伤的特定遗传疾病人群，因为这些措施可能不够敏感，无法识别临床显著变化。在过去十年中，与健康有关的生活质量测量（HRQOL）越来越多地被纳入临床试验作为结果测量。虽然传统的临床结果很重要，但这些新开发的仪器应与临床指标一起考虑，作为遗传疾病干预的临床试验效果的衡量标准。
The field of medical genetics is rapidly advancing, and therapeutic options to treat genetic syndromes are becoming increasingly available. An understanding of the pathophysiology of various genetic disorders has provided researchers the opportunity to propose and test pharmacologic agents in preclinical murine models with hopes of translation to human trials. The development of clinical trials can be costly and time consuming, particularly for rare conditions. Pilot feasibility studies should be performed when designing clinical trials for genetic disorders. The development and selection of appropriate outcome measures are particularly paramount in the implementation of clinical trials. The selection of inappropriate outcome measures can lead to non-measurable differences or clinically insignificant findings. In addition, just as age appropriate measures are needed, some instruments may not apply to populations with specific genetic disorders that have significant cognitive and physical impairment, as the measures may not be sensitive enough to identify clinically significant changes. .In the last decade health-related quality of life measures (HRQOL) have been increasingly included as an outcome measure in clinical trials. While traditional clinical outcomes are important, these newly developed instruments should be considered along with clinical indicators as measures of effect in clinical trials of interventions in genetic disorders.
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影响因子：
64.5
作者：
CAWTHON, RM;WEISS, R;WHITE, R
通讯作者：
WHITE, R
DOI：
10.1097/00004703-200608000-00002
发表时间：
2006-08-01
影响因子：
2.4
作者：
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影响因子：
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作者：
Furlong, William;Barr, Ronald D;Yandow, Suzanne
通讯作者：
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影响因子：
1.1
作者：
Hefti, F;Bollini, G;Wientroub, S
通讯作者：
Wientroub, S
影响因子：
1.9
作者：
Barton, B.;North, K.
通讯作者：
North, K.