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

Camp, Kathryn M; Lloyd-Puryear, Michele A; Yao, Lynne; Groft, Stephen C; Parisi, Melissa A; Mulberg, Andrew; Gopal-Srivastava, Rashmi; Cederbaum, Stephen; Enns, Gregory M; Ershow, Abby G; Frazier, Dianne M; Gohagan, John; Harding, Cary; Howell, R Rodney; Regan, Karen; Stacpoole, Peter W; Venditti, Charles; Vockley, Jerry; Watson, Michael; Coates, Paul M.
Mol Genet Metab; 109(4): 319-28, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23806236
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.
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