The following is a summary of “Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta,” published in the July 2023 issue of Endocrinology & Metabolism by Liu, et al.

Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely due to defects in type I collagen structure, synthesis, or post-translational processing. Medications’ effectiveness in reducing fractures in adults with OI was not well studied, and clear practice recommendations needed to be improved. Current treatments for skeletal health in OI were initially developed for osteoporosis. 

Both oral and intravenous Bisphosphonates have shown improvements in bone mineral density (BMD) in adults with OI and are commonly used, but data confirming fracture protection are lacking. Teriparatide seemed to increase BMD, but its effect appeared limited to individuals with type I OI. The potential of other medications like denosumab, abaloparatide, romosozumab, and estradiol/testosterone in adult OI has yet to be systematically studied. Anti-sclerostin agents and transforming growth factor-beta antagonists were under investigation in clinical trials. For a study, researchers sought to summarize the current knowledge on pharmacologic treatment options for reducing fracture risk in adults with OI.

In June 2022, a PubMed database search of all study types published in the English language using the terms “osteogenesis imperfecta,” “OI,” and “brittle bone disease” was conducted. The articles screened were limited to adults with OI, and additional sources were identified through manual searches of reference lists.

In adults with OI, the rate of fracture was higher. Bisphosphonates and teriparatide might help improve BMD, despite the paucity of clinical trial data. More research was required to create drugs for individuals with OI that will significantly lower the fracture rate.

Source: academic.oup.com/jcem/article-abstract/108/7/1787/6993462?redirectedFrom=fulltext