LONGITUDINAL STUDY OF THE RELATIONSHIP BETWEEN IMPAIRMENT, ACTIVITY LIMITATION

损伤与活动限制之间关系的纵向研究

• 批准号: 8166707
• 负责人: Timothy Edward Lotze
• 金额: $ 0.34万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-12-01 至 2010-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8166707
• 关键词: Adrenal Cortex Hormones; Affect; Characteristics; Classification; Code; Computer Retrieval of Information on Scientific Projects Database; Data; Databases; Development; Diagnosis; Disease; Disease Progression; Duchenne muscular dystrophy; Evaluation; Family; Frequencies; Funding; Future; Genetic; Genotype; Glucocorticoids; Goals; Grant; Health; Health Policy; Human Genetics; Human Genome; Impairment; Individual; Institution; International; Intervention; Life; Longitudinal Studies; Measurement; Modeling; Motor; Neuromuscular Diseases; Outcome; Outcome Measure; Patients; Performance; Persons; Phenotype; Population; Positioning Attribute; Prednisone; Public Health; Quality of life; Randomized; Regression Analysis; Rehabilitation Research; Rehabilitation therapy; Research; Research Personnel; Resources; Sample Size; Single Nucleotide Polymorphism; Source; Statistical Methods; Structure; Therapeutic Intervention; Time; United States National Institutes of Health; Variant; Work; World Health Organization; base; care burden; cohort; deflazacort; disability; functional status; genetic analysis; health related quality of life; improved; male; muscle strength; prospective; psychosocial; pulmonary function; response; satisfaction; service utilization

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study will establish the largest comprehensive longitudinal assessment of individuals with Duchenne muscular dystrophy, and it will be the first that uses the World Health Organization''s new framework on the International Classification of Functioning, Health and Disability. It will also longitudinally assess the psychosocial impact of the disease as it progresses on the affected persons with DMD and their families. The study will longitudinally examine the relationship between impairment, secondary conditions, activity limitation, participation and quality of life. In addition the study will evaluate the psychosocial impact of DMD in a large cohort of subjects. Regression analyses will determine the modifying effects of impairment, activities, participation and demographic data on quality of life. Successful development of an extensive and broad database will allow the performance of longitudinal prospective rehabilitation research, and evaluation of broad interventions in relation to quality of life outcomes in neuromuscular disorders. Also, the study will investigate single nucleotide polymorphisms (SNPs) in DMD patients to see how genetic variability potentially influences the efficacy of corticosteroid treatment in DMD. In addition, this project will provide a model for future multicenter efforts focusing on rehabilitation research for other neuromuscular diseases. Outcomes of this work will reach males with DMD and their families and may impact future public health policies that will positively affect their quality of life. Long term assessment of patients with DMD will reveal new physical and psychosocial characteristics related to the progression of the disease that will aid in diagnosis and treatment and facilitate improvements in patient quality of life. Also, analysis of genetic variability among DMD patients will provide new information related to improving DMD therapy. Phenotyping Study Aims Aim 1: Longitudinally assess body function and body structure (impairment) through the measurement of anthropometrics, muscle strength and pulmonary function in subjects with DMD through the multicenter CINRG network. Aim 2: Longitudinally assess activity limitations in subjects with DMD through CINRG with timed motor performance, burden of care, and functional status. Aim 3: Longitudinally assess secondary conditions in subjects with DMD. Aim 4: Longitudinally assess participation, life satisfaction, service utilization and health-related quality of life in subjects with DMD. Aim 5: Determine appropriate outcome measurements for impairment, activities (activity limitations), participation and quality of life to determine the effect of prednisone and other therapeutic interventions on these factors. Aim 6: Using the most robust impairment, activity, participation and quality of life outcome measures, determine the sample size, power and statistical methods for the analysis of the effect size for future planned randomized-controlled rehabilitation interventions in DMD. SNP Genotyping Study Aims Our goal of this the proposed study is to define polygenic modifiers of disease progression, and also response to treatment with glucocorticoids (prednisone and deflazacort). The most common type of human genetic variation is the single-nucleotide polymorphism (SNP), a base position at which two alternative bases occur at an appreciable frequency (>1%) in the population. SNPs are 90% of variation in the human genome. SNPs occur on the average of 1 per 1000 to 2000 bp throughout the 3.2 billion bp of the human genome while coding region SNPs (cSNPs) occur on the average of 1 per 346 bp.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 这项研究将建立对杜氏肌营养不良症患者最大的综合纵向评估，也是第一个使用世界卫生组织关于国际功能、健康和残疾分类的新框架的研究。它还将纵向评估该疾病进展对受影响的DMD患者及其家人的心理社会影响。 该研究将纵向研究损伤、继发性疾病、活动受限、参与和生活质量之间的关系。此外，该研究将在一个大型受试者队列中评估DMD的心理社会影响。回归分析将确定损伤、活动、参与和人口统计学数据对生活质量的影响。一个广泛的数据库的成功开发将允许纵向前瞻性康复研究的性能，并在神经肌肉疾病的生活质量的结果进行广泛的干预措施的评价。此外，该研究还将调查DMD患者的单核苷酸多态性（SNP），以了解遗传变异性如何潜在地影响DMD患者皮质类固醇治疗的疗效。 此外，该项目还将为未来专注于其他神经肌肉疾病康复研究的多中心努力提供一个模型。这项工作的成果将惠及DMD男性患者及其家人，并可能影响未来的公共卫生政策，从而对他们的生活质量产生积极影响。 对DMD患者的长期评估将揭示与疾病进展相关的新的身体和心理社会特征，这将有助于诊断和治疗，并促进患者生活质量的改善。 此外，DMD患者的遗传变异性分析将为改善DMD治疗提供新的信息。 表型研究目的目的1：通过多中心CINRG网络，通过测量DMD受试者的人体测量学、肌肉力量和肺功能，纵向评估身体功能和身体结构（损伤）。目标二：通过CINRG纵向评估DMD受试者的活动限制，包括定时运动表现、护理负担和功能状态。目的3：纵向评估DMD受试者的继发性疾病。目的4：纵向评估DMD受试者的参与、生活满意度、服务利用和健康相关生活质量。目标5：确定损伤、活动（活动限制）、参与和生活质量的适当结果测量，以确定泼尼松和其他治疗干预对这些因素的影响。目标六：使用最可靠的损伤、活动、参与和生活质量结局指标，确定样本量、把握度和统计方法，用于分析未来计划的DMD随机对照康复干预措施的效应量。 SNP基因分型研究目的我们的目的是确定疾病进展的多基因修饰物，以及对糖皮质激素（泼尼松和地夫可特）治疗的反应。最常见的人类遗传变异类型是单核苷酸多态性（SNP），即在群体中以可感知的频率（>1%）出现两个替代碱基的碱基位置。SNP占人类基因组变异的90%。在整个32亿bp的人类基因组中，SNP平均每1000至2000 bp出现1个，而编码区SNP（cSNP）平均每346 bp出现1个。