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Standardized Data Structures in Rare Diseases: CDISC User Guides for Duchenne Muscular Dystrophy and Huntington's

Ariana P Mullin¹, Diane Corey¹, Emily C Turner¹

¹Critical Path Institute, Tucson, Arizona, USA.

Clinical and Translational Science

|July 24, 2020

Summary

Standardizing clinical data using Clinical Data Interchange Consortium (CDISC) Standards enhances rare disease drug development. This approach aids data integration, enabling a quantitative understanding of disease progression for faster regulatory approval.

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Area of Science:

Biomedical Informatics
Drug Development
Rare Diseases

Background:

Rare disease drug development faces challenges due to limited understanding of natural history and disease progression.
The Orphan Drug Act has spurred growth, with 40% of 2019 drug approvals targeting rare conditions.
International data standards are crucial for harmonizing and integrating data for quantitative analysis.

Purpose of the Study:

To describe the development of CDISC therapeutic area user guides for Duchenne muscular dystrophy and Huntington's disease.
To promote formalized data structures and controlled terminology for data integration.
To facilitate a quantitative understanding of rare disease progression.

Main Methods:

Development of CDISC therapeutic area user guides through Critical Path Institute consortia.
Defining formalized data structures and controlled terminology for data mapping and integration.
Leveraging US Food and Drug Administration (FDA) requirements for CDISC Standards in submissions.

Main Results:

Established guides for Duchenne muscular dystrophy and Huntington's disease using CDISC Standards.
Increased standardization of data collection across different sources.
Enabled integration and comparison of data from multiple studies.

Conclusions:

Clinical data standardization accelerates the understanding of rare disease progression.
Standardized data facilitates overcoming challenges in clinical trial design.
This approach ultimately leads to a faster regulatory approval pathway for new rare disease therapies.