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Longitudinal Study of Brittle Bone Disease

Principal Investigator:
Jay
Shapiro

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:

a. 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?

b. What is the relationship between various genotypes and disease severity and progression?

c. What is the safety and efficacy of currently used and new OI therapies?

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