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Mol Genet Metab. 2013 Apr;108(4):203-5. doi: 10.1016/j.ymgme.2013.01.013. Epub 2013 Jan 30.

Development of clinical guidelines for inborn errors of metabolism: commentary.

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Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.


This is one of an occasional series of articles commenting on trends, advances, and challenges in understanding and treating inborn errors of metabolism (IEMs). Previously, we have called attention to the critical lack of a clinical trial infrastructure to routinely evaluate new therapies for IEMs and the adverse effect of this deficit (Vockley and Vockley, 2010 [1]). In this article, we highlight the role of therapeutic guidelines in implementing best practice for IEMs and the processes used to generate them. Current conventions for evidence-based guidelines are best applied to studies involving significantly more subjects than is feasible for IEMs, and can lead to relative weak-appearing recommendations when applied to rare disorders. We propose a guideline development process that maintains the use of conventional methodologies but adapts to unique features and inherent difficulties dealing with rare conditions such as IEMs. Such guidelines will consist of a hybrid between evidence and consensus based processes. Implementation of these recommendations and subsequent therapeutic guidelines for IEMs provides an opportunity to define current knowledge as well as starting points for future clinical trials.

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