Establishment of a Rare Disease Clinical Outcome Assessment (COA) Consortium

More than 350 million people worldwide are impacted by one of more than 7,000 rare diseases. These conditions result in substantial burden on patients, families, communities and global health care systems. Most of these conditions are serious and life-altering, frequently requiring lifetime treatment. Nearly 50% of rare diseases impact children, of whom 30% will die by age 5. It is currently estimated that less than 10% of rare diseases have approved treatments. COAs to measure clinical benefit of treatment do not exist or remain unidentified for the majority of rare diseases. With no approved therapies for most rare diseases, and considerable uncertainty around appropriate treatment trial endpoints, a significant unmet public health need remains unfulfilled.

The Rare Disease COA Consortium seeks to address this need with the creation of the Rare Disease COA Resource that will identify and describe potentially fit-for-purpose publicly available COAs for use in treatment development programs across multiple rare diseases.
 

Our mission

To enable precompetitive, multi-stakeholder collaboration aimed at identifying scientifically sound tools and methodologies for collecting clinically meaningful outcomes data in treatment trials for rare diseases.
 

Our vision

To be an essential catalyst in medical product development for measuring what matters to people with rare disease and their families.
 

Rare Disease COA Resource

The Rare Disease Clinical Outcomes Assessment (COA) Consortium aims to accelerate the development of new medical products intended to safely and effectively treat people with rare diseases with the creation and curation of a Rare Disease COA Resource. This resource will provide information on publicly available COAs identified as potentially fit-for-purpose endpoint measures in treatment trials for rare diseases. The underlying premise for the Rare Disease COA Resource is that, for rare diseases that share common characteristics, existing COAs may be used or modified for use as endpoint measures for treatment trials. By identifying existing measures that are potentially fit-for-purpose, the considerable time and cost associated with the development of new COAs may be reduced.

A domain-level approach was selected to begin populating the Rare Disease COA Resource. The first iteration of the Rare Disease COA Resource focuses on the assessment of daily function in pediatric, non-oncologic populations. This overarching domain was broken down into the daily function subdomains of self-care, gross motor function, fine motor function, and communication. Other subdomains will be added over time.

Coming soon! Access the Rare Disease COA Resource

For questions or additional information about membership in the Rare Disease COA Consortium, please contact Lindsey Murray at lmurray@c-path.org.

Specific funding for the establishment of the Rare Disease COA Consortium was provided by FDA grant U01FD006882.