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:

  • 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?