Rare Disease Clinical Outcome Assessment Consortium

Overview

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) 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

1. 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;
2. Promote collaboration and education, and share learnings among member firms and consortium members to expedite innovations in rare clinical trial science; and
3. 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.

Rare Disease COA Resource

What is the Rare Disease COA Resource?

The Rare Disease COA Resource provides information on published COAs that have the potential to be used to support efficacy endpoints in treatment trials for rare diseases.

COAs included in the Rare Disease COA Resource represent the tools that are the most commonly used in current rare disease research and tools which have been published in the literature and were available to examine against evidentiary criteria. The Rare Disease COA Resource, therefore, only captures existing tools and may not include COAs that have been developed recently, but which lack publications to support their use. The Rare Disease COA Resource will be updated periodically to identify new tools that may warrant inclusion. Additionally, some historical COAs have been included because although they may not meet all evidentiary standards, they are the standard of care and allow for comparisons between individual rare disease populations and normative data.

The Rare Disease COA Resource is NOT a core outcome set. Core outcome sets are an agreed upon, standardized set of measures that should be gathered and reported as a minimum in all clinical research in specific areas of health or health care.

For each domain, multiple COAs have been identified. This is because the COAs selected for individual research programs still need to be carefully considered based on the suitability for the target population, coverage of concepts, applicability of the concept to the anticipated mechanism of action for the investigational product, abilities of each trial population, etc. Good measurement science principles still need to be applied to selection of the COAs from the Rare Disease COA Resource to ensure the optimal match with research targets can be met.

What can it do?

By identifying multiple existing COAs per domain, the considerable time and cost associated with identification of relevant COAs is dramatically reduced and available to all. Evidence from the extensive gap analysis on each COA included in this resource can be viewed for each tool individually or in comparison across several tools in a domain to aid with appropriate COA selection for an individual research program. The Rare Disease COA Resource can also inform patient advocacy groups of COAs available to measure outcomes of interest in patient registries and natural history studies.

Team

RD-COAC Team

Industry Co-Director

FDA Liaison