Dental Malocclusion and Craniofacial Development in OI

Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss and pain and difficulty getting around. People with moderate to severe OI may also be diagnosed with dentinogenesis imperfecta (DI). DI is characterized by grey or brown teeth that may chip and wear down and break easily. People with DI may also have skull and neck defects. These patients may have severe teeth misalignment resulting in clinically significant chewing problems. Teeth misalignment in OI is very hard to treat because of the quality and quantity of bone. The overall goal of this study is to improve dental health to improve the quality of life of people with OI.

Study Overview

• Status: Active, not recruiting
• Conditions: Osteogenesis Imperfecta

Detailed Description

Investigators will look at dental health in people with OI and will describe teeth misalignment and head and neck defects in individuals with moderate to severe Osteogenesis Imperfecta (OI).

Investigators will look at results from the Longitudinal study of OI to complete the study evaluations. Several x-rays will be performed for this study. Participants will have a 3D scan of the mouth and a Cone Beam CT scan of the jaw at a baseline visit and at 3 years after the baseline visit. These study visits can be at the same time as the Longitudinal Study of OI study visits.

• Study Type: Observational
• Enrollment (Actual): 75

Contacts and Locations

Study Locations

• Canada
  • Quebec
    • Montreal, Quebec, Canada, H3G 1A6
      • Shriners Hospital for Children
• United States
  • California
    • Los Angeles, California, United States, 90095
      • University of California Los Angeles
  • Texas
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 10 years to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Individuals with Severe OI

Description

Inclusion Criteria:

• Males and females with Clinical diagnosis of OI other than OI type I
• Individuals 10 years or older
• Participant of the Brittle Bone Disease (BBD) Longitudinal Study (7701)

Exclusion Criteria:

• Individuals who cannot be correctly positioned for valid radiographic analysis (e.g., due to severe scoliosis or short neck secondary to basilar invagination)
• Women who are pregnant

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Teeth Misalignment	Measure teeth misalignment in individuals with moderate to severe OI using scans of the teeth.	5 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Neck Defects	Determine neck defects in individuals with moderate to severe OI using scans of the neck and jaw.	5 years

Collaborators and Investigators

• Sponsor: Baylor College of Medicine
• Collaborators: University of California, Los Angeles; Oregon Health and Science University; Hospital for Special Surgery, New York; Children's National Research Institute; Shriners Hospitals for Children; University of Nebraska; Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Investigators: Study Chair: Jean-Marc Retrouvey, D.M.D., McGill University; Study Chair: Reid Sutton, M.D., Baylor College of Medicine; Study Chair: Frank Rauch, M.D., Shriners Hospital for Children

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2016
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): December 1, 2027

Study Registration Dates

• First Submitted: October 12, 2016
• First Submitted That Met QC Criteria: October 13, 2016
• First Posted (Estimated): October 17, 2016

Study Record Updates

• Last Update Posted (Actual): January 27, 2026
• Last Update Submitted That Met QC Criteria: January 23, 2026
• Last Verified: January 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Collagen Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Osteogenesis Imperfecta
• Other Study ID Numbers: H38629

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: The clinical information collected for this study will be stored in a computer database at the Data Management and Coordinating Center at the University of South Florida in Tampa, FL and also sent to a Federal data repository. A data repository provides a way for researchers to store the information collected during the research study for future research studies. The data management center uses several layers of protection for the clinical data stored in its computer database. It meets all of the local and federal security requirements for research datacenters. Information is stored only using a study identification number. Only the investigators and the study staff who collect and enter study data will have access to the key which links the identification number to the participant.