Baby Observational and Nutritional Study of Cystic Fibrosis

描述(由申请人提供)：通过新生儿筛查诊断CF的机会是对生命早期进行干预的机会。CFTR功能障碍和CF的临床综合征最早的后果之一是从婴儿期开始的营养不良(1)。营养不良的长期后遗症很严重，包括永久性的身高发育迟缓(2，3)，与维生素E缺乏有关的认知功能障碍(4，5)，以及肺功能更迅速的下降。最近发表的《婴幼儿囊性纤维化临床治疗指南》(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，但我们缺乏对婴儿的可重复的、客观的结果衡量标准，这阻碍了对这些治疗方法的早期研究。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研究这些干预措施。以身长体重或体重指数衡量的营养状况与肺功能密切相关。婴儿期是一个 因此，生长参数可能会对临床变化做出反应。我们假设，患有CF的婴儿的体重增加和线性增长不等于健康婴儿的参考人群，某些与健康相关的参数和生物标记物将识别生长不良的CF婴儿。我们打算在一项多中心研究中，以一种安全、可行的方式有效地描述生长发育的特征，并且某些因素将与生命第一年的次优生长有关。我们还预计，这些增长指标中的一项或多项将成为进一步评估这一人群营养缺乏症的强有力的、可重复的终点。如果我们成功地开发出了 可靠、有效和反应灵敏的生长测量可以在全国各地的护理中心进行，这些结果可以作为未来对患有CF的婴儿进行干预研究的疗效结果。 与公共卫生相关：囊性纤维化(CF)是一种缩短生命的疾病，会导致呼吸和消化问题，但现在可以在出生时诊断。婴儿的肺功能很难测量，但发育情况并非如此。在这项研究中，我们的目标是以研究质量和精确度定义出生第一年患有CF的婴儿的生长，并了解干扰良好生长的因素。如果我们成功了，这些生长指标可以用来显示在生命早期使用的治疗CF是否有效和安全。

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. PUBLIC HEALTH RELEVANCE: Cystic fibrosis (CF) is a life-shortening disease that causes breathing and digestive problems, but can now be diagnosed at the time of birth. Lung function is very hard to measure in infants, but growth is not. In this study we aim to define growth in infants with CF in the first year of life with research quality precision and understand factors tht interfere with good growth. If we are successful, these growth measures can be used to show whether treatments for CF are effective and safe when used early in life.