Background: Osteogenesis Imperfecta (OI), frequently known as brittle bone disease, describes a heterogeneous 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 live with this disorder. While individuals with OI rarely face limitations in cognitive ability, they do face significant developmental disability secondary to the range of physical and emotional or mental health challenges they face. Most pediatric OI patients (up to age 18-22) are cared for at one of over 60 OI clinics located around the country. Only five clinics, however, care for OI patients who are considered of adult age. The lack of adult OI care in the United States poses significant problems for transition to adult care and access to quality specialty care particularly for individuals living in geographically isolated areas.
Proposed Solution to the Problem:
To begin to address this problem, we propose to prepare the OI community to be able to compare different strategies for delivering high quality care for widely dispersed individuals with a complex disorder.
Activities: We will accomplish this by first expanding the reach of our patient-centered outcomes research (PCOR) education efforts to include a diverse group of stakeholders from across the United States. We will then use listening sessions, interviews, and surveys to explore how PCOR might identify opportunities for improving adult OI care. We will explore problems that young adults with OI have as they transition from pediatric to adult care, challenges that older adults with OI encounter as they seek primary and specialty care, difficulties that pediatric OI clinics have as they seek to successfully transition their patients to adult care, and barriers and facilitators that existing adult OI clinics encounter as they seek to provide appropriate and high-quality care to adult patients.
Projected Outcomes and Outputs: At the completion of this project, we will have significantly expanded the knowledge, competencies, and abilities of persons with OI and other stakeholders to be meaningful partners in future PCOR and comparative clinical effectiveness research (CER) studies. We will have significantly strengthened the skills of researchers to be better partners with patients and other stakeholders involved in PCOR/CER. We will pursue an aggressive dissemination program, specifically including publications in both the peer-reviewed literature and OI Foundation communications. Over the short term (0-2 years), the findings of this project will provide the foundation for developing future PCOR/CER projects which will identify optimal approaches for enhancing transition and adult care for individuals with OI over the long term (3+ years).
Patient and Stakeholder Engagement Plan: Patient and stakeholder engagement is at the core of this endeavor, and discussions with patients and families have helped create the impetus for the project. Patients and stakeholders will not just serve as participants but will have immense influence over the project through their role as partners. We will create a Patient Advisory Board (PAB) composed of young adult and adult patients, as well as the parents/caregivers of young adults who will contribute their unique perspectives formed from lived experience. Their input will be instrumental to project oversight, interview guide development, data analysis, and dissemination throughout the life of the project. We will emphasize engaging diverse patients and stakeholders because diverse perspectives are essential to developing solutions that will serve the entire OI community.
Project Collaborators: The project leadership will continue the successful partnership of the OI Foundation, the Children’s National Bone Health Program, and the Duke Center for Population Health Sciences. We will draw on our existing relationships with the National Institute of Health’s Coalition of Patient Advocacy Groups, the Rare Bone Disease Alliance, and the National Health Council to provide access to other patient organizations who can offer insights and innovations for providing expert care for adults with a rare disease.