The Problem:
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 healthcare 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. Less than 10% of rare diseases currently have approved treatments. And for the majority of rare diseases, viable endpoints to measure clinical benefit of treatment have not been identified. With no approved therapies for most rare diseases, a significant unmet public health need remains unfulfilled.
The Solution:
The Rare Disease Clinical Outcome Assessment (COA) Consortium (RD-COAC), founded by C-Path in 2022, enables precompetitive, multi-stakeholder collaboration aimed at identifying scientifically sound tools and methodologies for collecting clinically meaningful outcomes data in treatment trials for rare diseases. Its mission is to be an essential catalyst in drug development for measuring what matters to people with rare diseases.
The RD-COAC aims to accelerate the development of new drugs to safely and effectively treat people with rare diseases via the creation and curation of a Rare Disease COA Resource (RD-COAR). The Resource aims to simplify COA selection for use in rare disease therapeutic development by providing information on published COAs that have the potential to be used to support efficacy endpoints in treatment trials for rare diseases. The underlying premise for the 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.
RD-COAC Scientific Strategy
Expand the Rare Disease Clinical Outcome Assessment Resource into new domains of published COAs that have the potential to be used to support efficacy endpoints in treatment trials for rare diseases;- Promote collaboration and education, and share learnings among member firms and consortium members to expedite innovations in rare clinical trial science; and
- Advance solutions for methodological and measurement challenges in rare disease by engaging teams of experts focused on dissemination.
The Impact
By identifying existing measures with the potential to be used to support efficacy endpoints in treatment trials for rare diseases, 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 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.
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.
