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Osteogenesis imperfecta: New treatment options

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Abstract

Classic treatments of osteogenesis imperfecta for children and adults include rehabilitation therapy and orthopedic surgery. New treatments include bisphosphonates. Among them, the effects of intravenous pamidronate have been primarily evaluated in children in several open cohorts. Treatments of adult patients are not established. Several other treatments may have an effect on the fracture rate. However, further studies are needed to demonstrate an effect on fracture rate in children and adult patients. A new approach has been developed to replace mutated genes using mesenchymal stem cells and a construct, which inactivates COL1A1.

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References and Recommended Reading

  1. Rauch F Glorieux FH: Osteogenesis imperfecta. Lancet 2004, 363:1377–1385. This excellent review of osteogenesis imperfecta examined the literature focusing on classification, physiopathology, and treatments.

    Article  PubMed  CAS  Google Scholar 

  2. Pollitt R, McMahon R, Nunn J, et al.: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Hum Mutat 2006, 27:716.

    Article  PubMed  Google Scholar 

  3. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979, 16:101–116.

    Article  PubMed  CAS  Google Scholar 

  4. Glorieux FH, Rauch F, Plotkin H, et al.: Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000, 15:1650–1658.

    Article  PubMed  CAS  Google Scholar 

  5. Glorieux FH, Ward LM, Rauch F, et al.: Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002, 17:30–38.

    Article  PubMed  Google Scholar 

  6. Ward LM, Rauch F, Travers R, et al.: Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone 2002, 31:12–18.

    Article  PubMed  CAS  Google Scholar 

  7. Zeitlin L, Fassier F, Glorieux FH: Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B 2003, 12:77–87. An excellent review of orthopedic surgery treatment.

    Article  PubMed  Google Scholar 

  8. Glorieux FH, Bishop NJ, Plotkin H, et al.: Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998, 339:947–952.

    Article  PubMed  CAS  Google Scholar 

  9. Astrom E, Soderhall S: Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Arch Dis Child 2002, 86:356–364.

    Article  PubMed  CAS  Google Scholar 

  10. Zacharin M, Bateman J: Pamidronate treatment of osteogenesis imperfecta—lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. J Pediatr Endocrinol Metab 2002, 15:163–174.

    PubMed  CAS  Google Scholar 

  11. Banerjee I, Shortland GJ, Evans WD, Gregory JW: Osteogenesis imperfecta and intravenous pamidronate. Arch Dis Child 2002, 87:562–563.

    Article  PubMed  CAS  Google Scholar 

  12. Rauch F, Travers R, Plotkin H, Glorieux FH: The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. J Clin Invest 2002, 110:1293–1299. This study showed that pamidronate, the most commonly used evaluated bisphosphonate, inhibits only resorption and not formation in modeling bone, whereas resorption and formation are inhibited in remodeling bone, as in adult patients treated by bisphosphonate.

    Article  PubMed  CAS  Google Scholar 

  13. Rauch F, Plotkin H, Travers R, et al.: Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. J Clin Endocrinol Metab 2003, 88:986–992.

    Article  PubMed  CAS  Google Scholar 

  14. Zeitlin L, Rauch F, Plotkin H, Glorieux FH: Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. Pediatrics 2003, 111:1030–1036.

    Article  PubMed  Google Scholar 

  15. Montpetit K, Plotkin H, Rauch F, et al.: Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta. Pediatrics 2003, 111:601–603.

    Article  Google Scholar 

  16. Grissom LE, Harcke HT: Radiographic features of bisphosphonate therapy in pediatric patients. Pediatr Radiol 2003, 33:226–229.

    PubMed  Google Scholar 

  17. Langman CB: Improvement of bone in patients with osteogenesis imperfecta treated with pamidronate-lessons from biochemistry. J Clin Endocrinol Metab 2003, 88:984–985.

    Article  PubMed  CAS  Google Scholar 

  18. Zacharin M, Kanumakala S: Pamidronate treatment of less severe forms of osteogenesis imperfecta in children. J Pediatr Endocrinol Metab 2004, 17:1511–1517.

    PubMed  CAS  Google Scholar 

  19. Arikoski P, Silverwood B, Tillmann V, Bishop NJ: Intravenous pamidronate treatment in children with moderate to severe osteogenesis imperfecta: assessment of indices of dualenergy X-ray absorptiometry and bone metabolic markers during the first year of therapy. Bone 2004, 34:539–546.

    Article  PubMed  CAS  Google Scholar 

  20. Grissom LE, Kecskemethy HH, Bachrach SJ, et al.: Bone densitometry in pediatric patients treated with pamidronate. Pediatr Radiol 2005, 35:511–517.

    Article  PubMed  Google Scholar 

  21. Forin V, Arabi A, Guigonis V, et al.: Benefits of pamidronate in children with osteogenesis imperfecta: an open prospective study. Joint Bone Spine 2005, 72:313–318.

    Article  PubMed  Google Scholar 

  22. Vallo A, Rodriguez-Leyva F, Rodriguez Soriano J: Osteogenesis imperfecta: anthropometric, skeletal and mineral metabolic effects of long-term intravenous pamidronate therapy. Acta Paediatr 2006, 95:332–339.

    Article  PubMed  Google Scholar 

  23. Rauch F, Travers R, Glorieux FH: Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy. J Clin Endocrinol Metab 2006, 91:511–516.

    Article  PubMed  CAS  Google Scholar 

  24. Land C, Rauch F, Glorieux FH: Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta. J Bone Miner Res 2006, 21:374–379.

    Article  PubMed  CAS  Google Scholar 

  25. Zeitlin L, Rauch F, Travers R, et al.: The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. Bone 2006, 38:13–20.

    Article  PubMed  CAS  Google Scholar 

  26. Munns CF, Rauch F, Travers R, Glorieux FH: Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. J Bone Miner Res 2005, 20:1235–1243. This study describes a large series of children treated before 2 years of age.

    Article  PubMed  CAS  Google Scholar 

  27. DiMeglio LA, Ford L, McClintock C, Peacock M: Intravenous pamidronate treatment of children under 36 months of age with osteogenesis imperfecta. Bone 2004, 35:1038–1045.

    Article  PubMed  CAS  Google Scholar 

  28. Rauch F, Plotkin H, Zeitlin L, Glorieux FH: Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. J Bone Miner Res 2003, 18:610–614.

    Article  PubMed  CAS  Google Scholar 

  29. Letocha AD, Cintas HL, Troendle JF, et al.: Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res 2005, 20:977–986.

    Article  PubMed  CAS  Google Scholar 

  30. Gatti D, Antoniazzi F, Prizzi R, et al.: Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res 2005, 20:758–763.

    Article  PubMed  CAS  Google Scholar 

  31. Sakkers R, Kok D, Engelbert R, et al.: Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet 2004, 363:1427–1431. This study, which evaluated an oral bisphosphonate in children, is one of the rare randomized placebo-controlled trials in children.

    Article  PubMed  CAS  Google Scholar 

  32. Glorieux F, Rauch F, Ward LM, et al.: Alendronate in the treatment of pediatric osteogenesis imperfecta. J Bone Miner Res 2004, 19:S12.

    Google Scholar 

  33. DiMeglio LA, Peacock M: Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. J Bone Miner Res 2006, 21:132–140.

    Article  PubMed  Google Scholar 

  34. Rauch F, Munns C, Land C, Glorieux FH: Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 2006, 91:1268–1274.

    Article  PubMed  CAS  Google Scholar 

  35. Munns CF, Rauch F, Ward L, Glorieux FH: Maternal and fetal outcome after long-term pamidronate treatment before conception: a report of two cases. J Bone Miner Res 2004, 19:1742–1745.

    Article  PubMed  Google Scholar 

  36. Chan B, Zacharin M: Maternal and infant outcome following pamidronate treatment of polyostotic fibrous dysplasia and osteogenesis imperfecta before conception: a report of four cases. J Clin Endocrinol Metab 2006, 91:2017–2020.

    Article  PubMed  CAS  Google Scholar 

  37. Shapiro JR, McCarthy EF, Rossiter K, et al.: The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta. Calcif Tissue Int 2003, 72:103–112.

    Article  PubMed  CAS  Google Scholar 

  38. Adami S, Gatti D, Colapietro F, et al.: Intravenous neridronate in adults with osteogenesis imperfecta. J Bone Miner Res 2003, 18:126–130.

    Article  PubMed  CAS  Google Scholar 

  39. Chevrel G, Schott AM, Fontanges E, et al.: Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res 2006, 21:300–306. The only randomized, double-blind placebo-controlled trial published in adult patients with osteogenesis imperfecta.

    Article  PubMed  CAS  Google Scholar 

  40. Marini JC, Hopkins E, Glorieux FH, et al.: Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen. J Bone Miner Res 2003, 18:237–243.

    Article  PubMed  CAS  Google Scholar 

  41. Zack P, Franck L, Devile C, Clark C: Fracture and nonfracture pain in children with osteogenesis imperfecta. Acta Paediatr 2005, 94:1238–1242. Interesting series that specifically studies pain in children with osteogenesis imperfecta as well as its treatment.

    Article  PubMed  Google Scholar 

  42. Niyibizi C, Wang S, Mi Z, Robbins PD: Gene therapy approaches for osteogenesis imperfecta. Gene Ther 2004, 11:408–416. A review of new development in gene therapy of osteogenesis imperfecta.

    Article  PubMed  CAS  Google Scholar 

  43. Chamberlain JR, Schwarze U, Wang PR, et al.: Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science 2004, 303:1198–1201.

    Article  PubMed  CAS  Google Scholar 

  44. Munns CF, Rauch F, Zeitlin L, et al.: Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. J Bone Miner Res 2004, 19:1779–1786.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Rolando Cimaz MD.

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Chevrel, G., Cimaz, R. Osteogenesis imperfecta: New treatment options. Curr Rheumatol Rep 8, 474–479 (2006). https://doi.org/10.1007/s11926-006-0044-0

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  • DOI: https://doi.org/10.1007/s11926-006-0044-0

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