Bone Abstracts

Objectives: Two important goals of the Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium (RDCRN BBD) are i) to perform collaborative clinical research in brittle bone disorders including a longitudinal observational study driven by genotypic association and ii) to explore use of the PROMIS tool to provide valid quality of life (QOL) measures in individuals with Osteogenesis Imperfecta (OI). This work has been motivated by the fact that all current outcome measures in OI have been developed by medical experts without input from patients; yet, patients and clinicians often disagree on level of disease burden. As the possibility of new medical, genetic and surgical treatments for OI become available, it is imperative to develop clinical scoring instruments which capture the disease characteristics of importance to individuals with OI in order to fully compare and contrast the impact of new treatments as well as determine future needs and research topics.

Methods: Using a web-based platform, 300 individuals with self-reported OI, representing a wide range of self-reported disease severity, were recruited from the RDCRN BBD Contact Registry to respond to a survey utilizing Patient-Reported Outcomes Measurement Information System (PROMIS) instruments focused on a wide range of health issues including mobility, anxiety, and fatigue. Parent proxy surveys were provided for children.

Results: 290 individuals completed the survey including 92 children represented by parent proxy. 94% self-identified as white. Fewer than 30% 78/290 had had their diagnosis/type confirmed by skin biopsy or DNA. Nearly half reported having affected family members. 56% walked unaided while 23% used a wheelchair; 26% reported difficulty with breathing and 38% percent reported hearing loss. 52% reported undergoing rodding surgery while only 13% have required spine surgery. 53% of women over 18 had been pregnant. PROMIS score variations suggest that the instruments used can appropriately pick up changes in QOL measures. We will validate survey results by including data from the natural history portion of the BBD study.

Conclusion: Adults with OI vary from the general population in QOL measures. Our survey experience supports an internet-based strategy for successful patient-centered outcomes research in rare disease populations. The Brittle Bone Disorders Consortium (U54AR068069-01) is a part of the NCATS RDCRN. RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between the NCATS, the National Institute of Dental and Craniofacial Research (NIDCR), the National Institute of Child Health and Human Development (NICHD) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).

Disclosure: The authors declared no competing interests.