Baby Observational and Nutritional Study of Cystic Fibrosis

囊性纤维化的婴儿观察和营养研究

• 批准号: 8510640
• 负责人: Drucy Borowitz
• 金额: $ 39.73万
• 依托单位: SEATTLE CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-07-15 至 2016-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8510640
• 关键词: 1 year old; 9 year old; Accounting; Affect; Age; Ancillary Study; Biological Markers; Birth; Blood; Body mass index; Body part; Breathing; Caring; Characteristics; Clinical; Clinical Data; Clinical Management; Clinical Trials; Communities; Consent; Consumption; Country; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; DNA; Data; Databases; Diagnosis; Diet; Disease; Early Diagnosis; Early treatment; Elements; Enrollment; Epidemiologic Studies; Equilibrium; Evaluation; Exclusion Criteria; Exhibits; Exocrine pancreatic insufficiency; Failure; Feces; Foundations; Functional disorder; Future; Gastrointestinal Diseases; Gastrointestinal tract structure; Genetic; Growth; Guidelines; Health; Height; Heterogeneity; Ileus; Impaired cognition; Infant; Infection; Inflammation; Inflammatory; Inflammatory disease of the intestine; Intake; Intervention; Lead; Length; Life; Link; Longitudinal Studies; Malnutrition; Measurement; Measures; Meconium; Micronutrients; Minerals; Monitor; Mutation; National Institute of Diabetes and Digestive and Kidney Diseases; Natural History; Neonatal Screening; Nutrient; Nutritional; Nutritional Study; Nutritional status; Observational Study; Outcome; Outcome Measure; Pancreatic enzyme; Parents; Patients; Pattern; Population; Property; Proteins; Publishing; Randomized; Research; Research Infrastructure; Research Personnel; Resources; Respiratory Tract Infections; Respiratory physiology; Safety; Site; Specimen; Sweat; Sweating; Symptoms; Syndrome; Techniques; Time; United States; Urine; Vitamin E Deficiency; Weight; Weight Gain; Weights and Measures; cystic fibrosis patients; design; disease mechanisms study; disorder control; effective therapy; enzyme replacement therapy; experience; follow-up; gastrointestinal; gastrointestinal function; improved; infancy; insight; microbiome; neonate; novel therapeutic intervention; patient population; patient registry; population based; prevent; prospective; pulmonary function; randomized trial; rapid growth; repository; respiratory

DESCRIPTION (provided by applicant): The opportunity to diagnose CF by newborn screening is an opportunity to intervene early in life. One of the earliest consequences of CFTR dysfunction and the clinical syndrome of CF is malnutrition which begins in infancy (1). The long term sequelae of malnutrition are significant and include permanent stunting of stature (2, 3), cognitive dysfunction linked to vitamin E deficiency (4, 5) and more rapid decline in pulmonary function. Recently published Guidelines for the Clinical Management of Infants with Cystic Fibrosis (6) emphasize nutritional management while exposing a scarcity of evidence to dictate care. We have a range of effective treatments to control disease in patients with CF but our lack of reproducible, objective outcome measures in infants has prevented these treatments from being studied early in life. Furthermore, as new mutation-specific interventions are developed, we hope to be able to study these in the youngest of patients. Nutritional status as measured by weight-for-length or body mass index is tightly correlated with lung function. Infancy is a time of rapid growth, thus growth parameters are likely to be responsive to clinical changes. We hypothesize that incremental weight gain and linear growth in infants with CF is not equal to a reference population of healthy infants and that certain health-related parameters and biomarkers will identify CF infants with poor growth. We intend to show that growth can be effectively characterized in a safe, feasible manner in a multi-center study and that certain factors will be associated with sub-optimal growth during the first year of life. We also expect that one or more of these growth measures will emerge as a strong, reproducible endpoint for further evaluation of nutritional deficiency in this population. If we are successful in developing reliable, valid and responsive growth measurements that can be performed at care centers around the country, these could be used as efficacy outcomes for future interventional studies in infants with CF.

描述（由申请人提供）：通过新生儿筛查诊断CF的机会是在生命早期进行干预的机会。CFTR功能障碍和CF临床综合征的最早后果之一是始于婴儿期的营养不良（1）。营养不良的长期后遗症是显著的，包括永久性身材发育不良（2，3），与维生素E缺乏相关的认知功能障碍（4，5）和肺功能更快的下降。最近出版的婴儿囊性纤维化临床管理指南（6）强调营养管理，同时暴露出缺乏证据来指导护理。我们有一系列有效的治疗方法来控制CF患者的疾病，但我们缺乏可重复的，客观的婴儿结局指标，阻碍了这些治疗方法在生命早期的研究。此外，随着新的突变特异性干预措施的开发，我们希望能够在最年轻的患者中进行研究。通过身长体重或体重指数测量的营养状况与肺功能密切相关。婴儿期是 快速生长，因此生长参数可能对临床变化有反应。我们假设CF婴儿的体重增量和线性生长不等于健康婴儿的参考人群，某些健康相关的参数和生物标志物将识别生长不良的CF婴儿。我们打算在多中心研究中以安全、可行的方式有效地描述生长特征，并且某些因素将与出生后第一年的次优生长相关。我们还预计，这些生长指标中的一个或多个将成为进一步评估该人群营养缺乏的强有力的、可重复的终点。如果我们成功地开发出 可靠，有效和反应性的生长测量，可以在全国各地的护理中心进行，这些可以作为未来CF婴儿干预研究的疗效结果。