Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium

Ther Adv Rare Dis. 2024 Dec 16:5:26330040241307962. doi: 10.1177/26330040241307962. eCollection 2024 Jan-Dec.

Abstract

There is a significant unmet need to develop and evaluate new treatments for people living with one of approximately 8000 rare diseases. Well-known difficulties in conducting clinical trials (e.g., small samples, wide geographic distribution, heterogeneous symptoms) and developing products for these rare indications persist. Identifying outcomes in rare disease clinical trials remains a hurdle that contributes to the challenges for drug and gene therapy development due to uncertainty about what aspects of a condition to measure for safety and efficacy and often with no regulatory approval precedent. To accelerate rare disease treatments by advancing outcomes measurement, the US Food and Drug Administration (FDA) funded a cooperative agreement to establish the Rare Disease COA Consortium (RD-COAC) in 2019. The RD-COAC officially launched on January 1, 2022, with the mission to enable pre-competitive, multi-stakeholder collaboration aimed at identifying scientifically sound tools and methodologies for collecting clinically meaningful and patient-centric outcomes data in treatment trials for rare diseases. The RD-COAC has four complementary workstreams to advance COA measurement for rare disease clinical trials: (1) Rare Disease COA Resource; (2) Advancing COA Measurement Topic-Focused Working Groups; (3) Rare Disease Discussion Sessions for pre-competitive collaboration and shared learnings among RD-COAC members; and (4) Dissemination. This review provides an overview of the RD-COAC's activities to date, as well as future directions and opportunities to collaborate.

Keywords: COAs; Rare Disease COA Resource; clinical outcome assessments; pre-competitive multi-stakeholder consortium; rare disease.

Plain language summary

Establishment of the Rare Disease Clinical Outcome Assessment Consortium Approximately 10% of people worldwide are impacted by a rare disease, many in early childhood. Many rare diseases are life-altering or fatal, establishing a need to develop and approve effective medications to improve the lives of those living with a rare disease. However, there are substantial challenges in designing, conducting, and interpreting clinical trials in rare disease populations. To meet these challenges, there has been an unprecedented response within the global scientific, biopharmaceutical industry, regulatory agencies, and patient communities to prioritize rare disease research, accelerate insights, and expedite treatment approvals. These efforts are reflected in pre-competitive collaborations, international basic and translational science centers, rare disease research networks and training programs, data harmonization/sharing platforms, global regulatory agency collaborations, government regulation/legislation, and the increased focus on patient involvement in rare disease drug and gene therapy development. To accelerate rare disease treatments by advancing outcomes measurement, the US Food and Drug Administration (FDA) funded a cooperative agreement to establish the Rare Disease Clinical Outcome Assessment Consortium (RD-COAC) in 2019. The RD-COAC officially launched on January 1, 2022, with the mission to enable pre-competitive, multi-stakeholder collaboration aimed at identifying scientifically sound tools and methodologies for collecting clinically meaningful and patient-centric outcomes data in treatment trials for rare diseases. The RD-COAC has four complementary workstreams to advance COA measurement for rare disease clinical trials: (1) Rare Disease COA Resource; (2) Advancing COA Measurement Topic-Focused Working Groups; (3) Rare Disease Discussion Sessions for pre-competitive collaboration and shared learnings among RD-COAC members; and (4) Dissemination. This review summarizes the RD-COAC’s activities to date, as well as future directions and opportunities to collaborate.

Publication types

  • Review