Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

Elsa Shapiro, Jessica Bernstein, Heather R. Adams, Ann J. Barbier, Teresa Buracchio, Peter Como, Kathleen A. Delaney, Florian Eichler, Jonathan C. Goldsmith, Melissa Hogan, Sarrit Kovacs, Jonathan W. Mink, Joanne Odenkirchen, Melissa A. Parisi, Alison Skrinar, Susan E. Waisbren, Andrew E. Mulberg

Research output: Contribution to journalComment/debatepeer-review

16 Scopus citations


Well-defined and reliable clinical outcome assessments are essential for determining whether a drug provides clinically meaningful treatment benefit for patients. In 2015, FDA convened a workshop, "Assessing Neurocognitive Outcomes in Inborn Errors of Metabolism." Topics covered included special challenges of clinical studies of inborn errors of metabolism (IEMs) and other rare diseases; complexities of identifying treatment effects in the context of the dynamic processes of child development and disease progression; and the importance of natural history studies. Clinicians, parents/caregivers, and participants from industry, academia, and government discussed factors to consider when developing measures to assess treatment outcomes, as well as tools and methods that may contribute to standardizing measures. Many issues examined are relevant to the broader field of rare diseases in addition to specifics of IEMs.

Original languageEnglish (US)
Pages (from-to)65-69
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number2
StatePublished - Jun 1 2016

Bibliographical note

Funding Information:
An example of ongoing efforts to standardize assessments is the Common Data Elements (CDEs) Project of the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health. This project uses common data elements that apply to multiple fields of research to enable clinical investigators to share information reliably. It facilitates systematic collection, analysis, and sharing of data across research communities. Objectives of the CDE project include: (1) to identify common data elements used in clinical research; (2) to present data elements in standard, widely available formats; (3) to establish common definitions and validate permissible values and ranges to guide researchers in selecting CDEs most applicable to studies; (4) to standardize case report forms and other instruments; and (5) to provide standardized information to researchers for database development. Common data elements can accelerate the pace of clinical research for rare diseases by rendering data more comparable and facilitating multi-center and international efforts [12] . 6.2.2

Publisher Copyright:
© 2016 Published by Elsevier Inc.


  • Clinical outcome assessment
  • Drug development
  • Inborn errors
  • Natural history studies
  • Neurocognitive
  • Rare diseases


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