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Disease Registries and Outcomes Research in Children

Focus on Lysosomal Storage Disorders

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Abstract

Assessing medicines specifically for use in children has been neglected in the past, with the majority of formal clinical studies being conducted in adults. Clinical trials are a pivotal part of the drug approval process; however, they are not always applicable to the diverse populations — including children — that receive the drug after approval. They may not be the most informative assessment tool, especially in rare (or orphan) disorders where there are few patients, due to a lack of existing natural history data and the challenges of designing appropriately powered statistical analyses.

Disease registries, which can collect clinical information in larger, more heterogeneous populations than can be included in a clinical trial, are becoming increasingly valuable. Their use is particularly beneficial for diseases affecting very small patient populations, such as lysosomal storage disorders (LSDs), and for looking at specific populations, for example, children. Such disease registries can provide natural history data as well as enable the impact of therapy to be examined. Moreover, despite potential limitations of enrollment bias and unmonitored data, patient registries can play a valuable role in assuring pediatric health, providing longitudinal data that can be used to monitor developmental outcomes in chronic lifelong diseases, and assessing the effectiveness of treatment.

This review describes the role of registries in drug development and regulatory approval, the impact of global registry programs on pediatric research, with some examples from the field of LSDs, and how registries are impacting the clinical care such children receive.

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Acknowledgements

Suyash Prasad and Emma James are employed by and hold stock options for Genzyme Corporation. Simon Jones has a consultancy arrangement with Genzyme Corporation, Shire Human Genetic Therapies, and Biomarin, and has received honoraria for speaking/education from Genzyme and Shire Human Genetic Therapies. The authors would like to thank Dr Jenny Moorman for editorial assistance. We would also like to thank Gerald Cox, Catherine Koepper, Dominique Bertin-Millet, Robert Brown, and Alexander Cole for input on the content of this article.

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Authors and Affiliations

  1. Willink Unit, Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK

    Simon Jones

  2. Genzyme Corporation, 500 Kendall Street, Cambridge, Massachusetts, 02142, USA

    Emma James &  Suyash Prasad

  3. Department of Paediatrics, Cromwell Hospital, London, UK

    Suyash Prasad

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  1. Simon Jones
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  2. Emma James
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  3. Suyash Prasad
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Correspondence to Suyash Prasad.

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Jones, S., James, E. & Prasad, S. Disease Registries and Outcomes Research in Children. Pediatr-Drugs 13, 33–47 (2011). https://doi.org/10.2165/11586860-000000000-00000

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