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Intravenous bisphosphonate therapy in children with osteogenesis imperfecta
Marni J Falk1, Shauna Heeger, Katherine A Lynch
1Department of Genetics and Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Insights
Intravenous pamidronate therapy significantly improved bone mineral density (BMD) z scores in children with osteogenesis imperfecta (OI). While fracture rates showed no clear correlation, patients experienced functional mobility improvements.
Area of Science:
- Pediatric Endocrinology
- Bone Metabolism
- Genetic Disorders
Background:
- Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones.
- Previous studies suggest bisphosphonates may benefit children with OI, but protocols vary.
- Independent replication of OI treatment protocols is needed.
Purpose of the Study:
- To confirm the efficacy of a specific intravenous bisphosphonate protocol in children with moderate to severe OI.
- To evaluate the impact of pamidronate on bone mineral density (BMD) and functional outcomes.
Main Methods:
- Prospective clinical trial involving 6 children (22 months to 14 years) with OI.
- Intravenous pamidronate administered cyclically for at least 2 years.
- Assessed lumbar spine areal BMD, BMD z score, fracture rate, and functional mobility via Pediatric Evaluation of Disability Inventory.
Main Results:
- Significant annual increase in BMD (48%) and BMD z score (1.0) during therapy.
- No clear correlation observed between BMD changes and fracture rates.
- All patients demonstrated functional improvement in mobility.
Conclusions:
- Cyclic intravenous pamidronate is effective in improving BMD z scores and reducing physical disability in children with OI.
- Long-term follow-up is necessary to ascertain effects on fracture rates and sustained mobility improvements.
Objective:
Several studies have reported beneficial effects of bisphosphonates in children with osteogenesis imperfecta (OI); however, these studies have differed in the protocols they used, and none has been independently replicated. We intended to confirm the efficacy of a specific intravenous bisphosphonate protocol in children with moderate to severe OI.
Methods:
We used the protocol described by Glorieux et al and performed a prospective clinical trial in 6 children who were aged 22 months to 14 years. Each patient received intravenous pamidronate therapy for a minimum of 2 years in cycles of 1 mg/kg daily over 3 consecutive days at a mean cycle interval of 3.8 months. Outcome measures included lumbar spine areal bone mineral density (BMD) and z score, fracture rate, and occupational therapy functional assessment with serial Pediatric Evaluation of Disability Inventory.
Results:
While on therapy, the average annual increase in areal BMD was 48% and the average annual increase in BMD z score was 1.0. This increase in z score is statistically significant. There was no clear correlation between changes in BMD and fracture rate. All patients experienced functional improvement in mobility.
Conclusions:
Our results support the findings of Glorieux et al that cyclic administration of intravenous pamidronate in children with OI has beneficial effects with respect to BMD z scores and physical disability. Long-term follow-up will be required to determine whether bisphosphonate therapy will decrease fracture rates and increase mobility in children with moderate to severe OI.