Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

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.

Keywords: 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.