Abstract
Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bone and reduced bone mineral density. Cyclic intravenous pamidronate is now the standard treatment for moderate to severe forms of OI, however clinical studies are not yet sufficient to conclude appropriate annual doze and ideal duration of therapy at present time. Oral alendronate is also effective in milder forms of OI. Zoledronic acid has undergone international multicentric clinical trials to examine efficiency and long-term side effects including osteonecrosis of the jaw. Teriparatide (rhPTH1-34) and denosumab (monoclonal antibody against RANK ligand) have the potential for management of OI. Stem cell and gene therapy are currently being actively investigated and may become clinically applicable in the near future.
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