PRISM: Patient Registry Item Specifications and Metadata for Rare Diseases

Patient registries are an important first step in estimating
the impact and understanding the causes of rare diseases

The re-use of question content and sharing of registry-building tools across rare diseases can ease the development of new patient registries and increase capacities for data sharing.


What is PRISM?

The goal of the PRISM Library project is to provide a central resource for information about data standards in patient registries, to collect existing registry questions and relevant standards into a searchable library, and to provide easy access to these questions and standards.

This standardized library of registry questions will:

  • speed the development and deployment of patient registries

  • allow registries to share and receive data from other registries or data sources.

  • enable cross-indication and cross-disease analyses

  • generate more meaningful results for rare disease patients, physicians, and researchers.

  • promote a bottom-up standardization by simply reducing the variation in questions across multiple rare disease registries.

Setting the Standards

There are hundreds – perhaps thousands – of patient registries underdevelopment with no coordination, support resources, or standards. The use of standards in new rare disease registries will:

  • Reduce the time and costs for developing new registries
  • Increase the quality and completeness of data collection
  • Enable opportunities for data sharing and cross-disease comparison

Because there are so many potentially relevant standards, and many rare disease registry areas that are lacking standards, PRISM can be a resource for rare disease registry sponsors and developers to understand and access relevant standards. The PRISM staff can identify and create important links between emerging registry standards to other standards development efforts. The use and support of PRISM by the rare disease community will begin to define registry-related standards and gaps. With this knowledge, PRISM representatives can then act as advocate for rare disease interests in various standards development organizations and national standards initiatives.

Some of this information is presented on these webpages, and we will update them as we learn of more resources.

Inside PRISM:

Overview and Strategy

Learn about objectives, scope and use-cases driving the PRISM project.

The Library

See how the PRISM Library supports implementation, expansion and revision of new registries. View the PRISM Library Prototype.

Resources and Links

Find information about our primary influencers, funding sources, and standards.


What's next for PRISM?

Our Team

The PRISM team works to define data requirements and foster communication within the rare diseases community.

Publications and Presentations

Access PRISM related publications