Improving Patient-Centered Outcomes: Expanding Engagement of the Osteogenesis Imperfecta Community

Osteogenesis imperfecta (OI) describes a group of genetic disorders related to connective tissue dysfunction and bone fragility. It is the most common of nearly 450 rare skeletal disorders; an estimated 25,000 to 50,000 individuals in the United States are living with OI.

As individuals with OI age, a vast array of other collagen-based problems such as gastrointestinal disorders, loss of mobility, impaired dentition, cardiopulmonary deficits, and hearing loss are frequently dominant themes. Lacking is information reflecting the patient’s voice about research priorities, quality of life, patient-reported outcomes, clinical best practices, and the natural history of a broad range of clinical and treatment concerns. The absence of this information results in inefficient, fragmented, and perhaps inappropriate care with highly variable outcomes and unnecessary expense.

Funding from the Patient-Centered Outcomes Research Institute (PCORI) will be used to enhance and expand the ongoing work of the OI Foundation (OIF). The team’s proposed two-year project involves five specific aims: expand the OI stakeholder community focused on performing patient-centered outcomes research (PCOR); expand existing OIF communication and education strategies; establish and extend capacity among the OI community to participate in PCOR activities; develop an OI-specific PCOR toolkit and extend the OI patient-centered comparative effecitveness research (CER) approach and products to support other rare bone disease communities. Achieving these objectives will help improve patient care by engaging all stakeholders (patients, caregivers, clinicians, and researchers) in identifying and prioritizing current gaps in care and treatment.

To achieve these objectives, the project will engage two stakeholder groups: the OI community and the clinicians and researchers that serve them. A diverse PCOR advisory board will include members of these two stakeholder groups as well as individuals with expertise in patient-reported outcomes (PROs)/PCOR/CER work and members of the Rare Bone Disease Alliance. Members of the communications and education committees will primarily be recruited from the OI community. Communication protocols will be devised to both inform and help gather important feedback from the patient community. Educational programs describing the importance of PCOR will be made a key component of all ongoing OIF educational events. Training for stakeholders interested in developing PCOR skills will be offered throughout the course of the project.

At the completion of this project, the team will have: created a community of stakeholders—patients/caregivers/clinicians/researchers—trained or training in and committed to engaging in PCOR, with specific attention to research topics that the OI community regards as high priority; expanded existing OIF communication and education strategies to create lasting relationships with engaged audiences that ultimately support sustainable participation in PCOR and achieve measurable, usable results that enhance the care of the OI community; established or extended capacity among OI patients, caregivers, clinicians, and researchers in the OI community to participate in PCOR and comparative effectiveness (CER) activities; developed an OI-specific PCOR toolkit that facilitates sustainable input from the community and promotes dissemination of evidence-based clinical care recommendations to the stakeholder and clinical care community; and extended the team’s OI PCOR/CER approach and products to support other rare bone disease communities.