Osteogenesis imperfecta, current and future medical treatment


  • Frank Rauch,

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    • Frank Rauch, M.D., is Assistant Director of Clinical Research at the Shriners Hospital for Children and Assistant Professor of Pediatrics at McGill University in Montreal. His research focuses on disorders of bone development.

  • Francis H. Glorieux

    Corresponding author
    • Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec, Canada H3G 1A6.
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    • Francis Glorieux, M.D., Ph.D., is the Director of Research at the Shriners Hospital for Children and Professor of Surgery, Pediatrics, and Human Genetics at McGill University in Montreal. His research interests include the pathogenesis and treatment of genetic and metabolic bone disorders in children and adolescents.


Physiotherapy, rehabilitation, and orthopedic surgery are the mainstay of treatment in moderate to severe forms of osteogenesis imperfecta (OI). Nevertheless, medical treatment with bisphosphonates can bring significant additional improvements. Benefits include decreased pain, lower fracture incidence, and better mobility. Among the various bisphosphonates, intravenous pamidronate has been studied in most detail. It is unclear whether oral bisphosphonates are as effective as intravenous pamidronate. As the effect of bisphosphonates on the skeleton is largest during growth, it appears logical to start medical therapy of OI patients as early as possible. However, the optimal treatment regimen and the long-term consequences of pamidronate treatment in children are currently unknown. Given these uncertainties, treatment with bisphosphonates during growth should be reserved for patients who have significant clinical problems, such as vertebral compression fractures or long bone deformities. Medical therapies other than bisphosphonates, such as growth hormone and parathyroid hormone, play a minor role at present. Gene-based therapy currently remains in the early stages of preclinical research. © 2005 Wiley-Liss, Inc.