Rare genetic disorders are defined by a prevalence of fewer than 1/2000 people, are chronic and affect patients throughout their lifespan. Osteogenesis imperfecta (OI) is a heterogeneous group of rare genetic bone disorders. OI is a debilitating condition that involves impaired mobility, high fracture incidence and subsequent limb deformities. No treatment exists today that targets the underlying abnormal collagen structure and organization. The mainstay in pediatric care of OI remains antiresorptive therapy with bisphosphonates, despite concerns of long-term effects on depressed bone turnover. While antiresorptive monoclonal antibody treatments are currently undergoing clinical trials in children and young adults, anabolic treatments that directly increase bone formation are currently approved for adults only and decrease in efficacy over a relatively short time span. The experience with these drugs in OI therapy is limited, as clinical studies are still ongoing.
