Rare Disease Clinical Outcome Assessment Consortium launched

Critical Path Institute (C-Path) has launched the Rare Disease Clinical Outcome Assessment (COA) Consortium, a public-private partnership focused on optimising COA selection during medical product development for rare diseases.

The consortium is a collaborative effort among C-Path, the US Food and Drug Administration (FDA), the National Organization for Rare Disorders (NORD), other government agencies, as well as key partners in the biopharma, clinical research and patient communities that are seeking treatments for rare diseases.

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. Nearly 50 percent of rare diseases impact children, of whom 30 percent will die by age five. It is currently estimated that less than 10 percent 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 programmes across multiple rare diseases.

“With the increased emphasis on patient centeredness in clinical trials, selection of COAs that assess outcomes that are meaningful is critical,” commented Dr Lindsey Murray,  Executive Director of the Rare Disease COA Consortium. “The vision of the Consortium is to catalyse medical product development by measuring what truly matters to people with rare diseases and their families.”

The underlying premise for the Rare Disease COA Resource is that, for rare diseases that share common characteristics, existing COAs may be leveraged 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.

With the support of funding provided by FDA, work toward developing the Rare Disease COA Resource has been underway since 2019. The first iteration of the resource focuses on the assessment of daily function in paediatric, non-oncologic rare disease populations.