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Longitudinal Study of Brittle Bone Disease
The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the natural history, current therapeutic interventions, morbidity, and mortality in people with OI.
The research questions are:
- In the longitudinal cohort, what is the prevalence of specific morbid indicators of disease severity, including fractures, pain, and functionality/mobility, as well as case-fatality associated with the various forms of OI?
- What is the relationship between various genotypes and disease severity and progression?
- What is the safety and efficacy of currently used and new OI therapies?