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的机会是在生命早期干预的机会。CFTR功能障碍和CF临床综合征最早的后果之一是婴儿期开始的营养不良(1)。营养不良的长期后遗症很严重，包括永久性身材发育迟缓（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，但缺乏指导护理的证据。我们有一系列有效的治疗方法来控制CF患者的疾病，但我们在婴儿中缺乏可重复的、客观的结果测量，这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发展，我们希望能够在最年轻的患者中进行研究。以身高体重指数或体重指数衡量的营养状况与肺功能密切相关。婴儿期是……的时期

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.