Engaging Patients With Rare Disease in Identifying Meaningful Approaches to Integrate Patient-Centered Outcomes in Comparative Effectiveness Research and Value Assessment

OBJECTIVES: The lack of consensus on assessing the value and effectiveness of treatments for rare diseases hinders the establishment of an evidence base to inform healthcare decisions and limits patient access to innovative therapies. Novel approaches to measuring outcomes and conducting research are needed. To build a consensus on recommendations for enhancing patient-centered outcomes research for rare diseases.

METHODS: A steering committee of 15 members was formed to guide the research. Three roundtable discussions, including patients/caregivers, clinicians, payers, industry experts, and others (N=46), were conducted. Seven key themes/domains and several recommendations emerged on what matters most to patients, caregivers, and other stakeholders in developing approaches in comparative effectiveness research and value assessment, particularly in the context of understanding outcomes important to rare disease patients. With multiple recommendations per domain, a ranking survey was conducted to derive a list of prioritized recommendations within each domain on urgency and feasibility.

RESULTS: The seven key domains include the patient journey and time, caregiver journey, early and continuing engagement and communication, data and method, economic impact, scientific spillover, and identifying common patient-centered outcomes. The prioritized recommendations include earlier engagement and collaboration with patients/caregivers throughout the drug development timeline, continuous advocacy for research on outcomes significant to patients, and consistent data collection on these outcomes over time. Additionally, gaining insights into the caregiver journey and systematically collecting data on various aspects of their experiences is crucial.

CONCLUSIONS: Consensus has been achieved through strategic convening with patients and stakeholders. The proposed prioritized recommendations offer a strategic framework for addressing research challenges in rare disease therapy evaluation. These recommendations should be earnestly considered and implemented into actual practice, representing a pivotal step towards advancing patient-centered outcomes research for rare diseases.