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

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. IEMinclude inherited biochemical disorders inwhich 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 psychosocialissues identified by patients and their families. A series of meetings and discussions were convened to explorethe current United States' funding and regulatory infrastructure and the challenges to the conduct of researchfor nutritional interventions for the management of IEM. Although the research and regulatory infrastructureare well-established, a collaborative pathway that includes the professional and advocacy rare disease communityand federal regulatory and research agencies will be needed to overcome current barriers.