关键词： ACA CDER CER CTSA Center for Drug Evaluation and Research Clinical and Translational Science Award Comparative Effectiveness Research DSHEA Dietary Supplement Health and Education Act Dietary supplements Eunice Kennedy Shriver National Institute of Child Health and Human Development FD&C Act FDA Federal Food, Drug and Cosmetic Act Food and Drug Administration GPCI GRDR Genetic Genetics in Primary Care Institute Global Rare Disease Patient Registry and Data Repository HIE HRSA Health Resources and Services Administration IEM IRB Inborn errors of metabolism LTFU Medical foods NBSTRN NCATS NICHD NIH National Center for Advancing Translational Sciences National Institutes of Health Newborn Screening Translational Research Network Newborn screening ODA ODS OOPD ORDR Office of Dietary Supplements Office of Orphan Product Development Office of Rare Diseases Research Orphan Drug Act PAH PCMH PCORI PHE PKU Patient Protection and Affordable Care Act Patient-Centered Outcomes Research Institute RDCRN RDP Rare Diseases Clinical Research Network Rare Diseases Program Rare diseases health information exchange inborn errors of metabolism institutional review board long-term follow-up patient-centered medical home phenylalanine phenylalanine hydroxylase phenylketonuria

Mesh ： Diet Dietary Supplements Disease Management Drug Administration Routes Humans Metabolism, Inborn Errors / diet therapy genetics Nutritional Physiological Phenomena Rare Diseases United States

来  源：   DOI：10.1016/j.ymgme.2013.05.008   PDF(Sci-hub)   PDF(Pubmed)

Abstract：
A trans-National Institutes of Health initiative, Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM), was launched in 2010 to identify gaps in knowledge regarding the safety and utility of nutritional interventions for the management of inborn errors of metabolism (IEM) that need to be filled with evidence-based research. IEM include inherited biochemical disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. For some of these IEM, effective management depends primarily on nutritional interventions. Further research is needed to demonstrate the impact of nutritional interventions on individual health outcomes and on the psychosocial issues identified by patients and their families. A series of meetings and discussions were convened to explore the current United States\' funding and regulatory infrastructure and the challenges to the conduct of research for nutritional interventions for the management of IEM. Although the research and regulatory infrastructure are well-established, a collaborative pathway that includes the professional and advocacy rare disease community and federal regulatory and research agencies will be needed to overcome current barriers.
摘要：
一项跨国家卫生研究院的倡议，营养和膳食补充剂干预先天性代谢错误（NDSI-IEM），成立于2010年，旨在确定营养干预措施在管理先天性代谢错误（IEM）方面的安全性和实用性方面的知识差距，这些知识需要进行循证研究。IEM包括遗传性生化疾病，其中特定的酶缺陷会干扰外源性（饮食）或内源性蛋白质的正常代谢，碳水化合物，或脂肪。对于这些IEM中的一些，有效的管理主要取决于营养干预。需要进一步的研究来证明营养干预措施对个人健康结果以及患者及其家人确定的社会心理问题的影响。召开了一系列会议和讨论，以探讨美国当前的资金和监管基础设施以及为管理IEM进行营养干预研究所面临的挑战。尽管研究和监管基础设施已经成熟，需要一个合作的途径,包括专业和倡导罕见疾病社区和联邦监管和研究机构,以克服当前的障碍.
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