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Optimizing Rare Disease Registries and Natural History Studies

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Rare Disease Drug Development

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Abstract

A pervasive challenge to drug development in rare diseases is understanding and documenting their trajectories so that the effectiveness of new therapies can be measured against the lack of intervention. Lack of participants, lack of funding, data silos, duplicative efforts, data quality issues, and differing data standards all conspire to make scarce patient data even scarcer. As the focus on rare disease as a major unmet medical need increases, creative solutions from private, public, and combination consortia are evolving to tackle these problems. Common approaches include centralized multi-indication databases with common data elements to leverage economies of scale and federated models of data aggregation that overlay the intact source data with a common data lexicon. Aligning incentives between those seeking to use the data and the developers of the data in such a way that these efforts are supported consistently remains an unsolved challenge in many cases.

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  1. Muscular Dystrophy Association, New York, NY, USA

    Sharon Hesterlee

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  1. Sharon Hesterlee
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Correspondence to Sharon Hesterlee .

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  1. Rare Disease Consortium, Syneos Health Clinical Services, Morrisville, NC, USA

    Raymond A. Huml

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Hesterlee, S. (2021). Optimizing Rare Disease Registries and Natural History Studies. In: Huml, R.A. (eds) Rare Disease Drug Development. Springer, Cham. https://doi.org/10.1007/978-3-030-78605-2_8

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