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

Abstract

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.

Keywords: Clinical outcome assessment; Drug development; Inborn errors; Natural history studies; Neurocognitive; Rare diseases.

Published by Elsevier Inc.

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Fig. 1

Clinical trials designed to measure treatment outcomes must also take into account child development and disease progression. The dynamic factors of child development and disease progression are likely to have opposing effects. Standardized, well-defined, and reliable measures of neurocognitive outcomes are essential to enable researchers to assess treatment results reliably. Natural history studies aid in identifying factors associated with disease progression in the context of child development.