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 outco...

Background: Osteogenesis imperfecta (OI) is a heterogeneous, rare disorder most commonly affecting type I collagen. The OI Adult Natural History Initiative (OI ANHI) was established following a 2010 Ostegenesis Imperfecta Foundation (OIF) national meeting at which patient participants noted that i) there is little information about the natural history and progression of OI beyond childhood, and ii) most of the data available are focused on musculoskeletal issues. Adults with O...