BBD Longitudinal Study of Osteogenesis Imperfecta

Summary

Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life.

The overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.

Conditions

• Osteogenesis Imperfecta

Sponsors & Collaborators

• Shriners Hospitals for Children

  collaborator OTHER

• Hospital for Special Surgery, New York

  collaborator OTHER

• Children's National Research Institute

  collaborator OTHER

• Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

  collaborator OTHER

• University of California, Los Angeles

  collaborator OTHER

• Oregon Health and Science University

  collaborator OTHER

• University of Nebraska

  collaborator OTHER

• Alfred I. duPont Hospital for Children

  collaborator OTHER

• University of South Florida

  collaborator OTHER

• Phoenix Children's Hospital

  collaborator OTHER

• Marquette University

  collaborator OTHER

• Baylor College of Medicine

  lead OTHER

Principal Investigators

• V. Reid Sutton, M.D. · Baylor College of Medicine

• Frank Rauch, M.D. · McGill University

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2015-06-01

Primary Completion

2030-08-31

Completion

2031-12-31

Countries

• United States
• Canada

Study Locations