Autosomal Dominant Osteopetrosis: A Natural History Study

Study Overview

Physicians at Indiana University are conducting research in Autosomal Dominant Osteoporosis. 
Osteopetrosis is a rare metabolic bone disease that can cause hard bones that can break easily.
The purpose of this study is to establish a cohort of serially phenotyped subjects to capture clinically important and patient-centered outcomes to characterize variations in disease severity, progression of disease, and novel biomarkers for current and future disease severity, and to also provide a source for recrutiment into future therapeutic clinical trials of disease modifiying agents. 
Your participation in this study could help to further increase the scientific community’s understanding of osteopetrosis (ADO2).

Study Description

Participants will review information about their health, specifially bone health, with researchers, and provide blood, urine, stool, and possibly saliva samples. Participants will also have a brief physical and collection of vital signs.
Participants may also participate in physical testing: physical testing once per year for 3 years, to include x-ray, CT scan, spine BMD QCT, and Muskuloskeletal Function, Imaging and Tissue (FIT) Resource Core (a separate  research study).
Additionally, study data collected under the Musculoskeletal Function, Imaging and Tissue (FIT) Resource Core Study will also be utilized for this study.

  • IRB Number: 1907216574
  • Research Study Identifier: 1907216574
  • Principal Investigator: Michael Econs, MD
  • Principal Investigator: Amy Katz

Recruitment Status


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