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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Osteogenesis Imperfecta Bone Diseases Bone Diseases, Developmental Collagen Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Musculoskeletal Diseases Osteochondrodysplasias Skin and Connective Tissue Diseases

Age range

10 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Shriners Hospital for Children, Montreal, Quebec, Canada

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Teeth Misalignment

Time frame: 5 years

Measure teeth misalignment in individuals with moderate to severe OI using scans of the teeth.

Secondary outcomes

Neck Defects

Time frame: 5 years

Determine neck defects in individuals with moderate to severe OI using scans of the neck and jaw.

Sponsors and collaborators

Lead sponsor

Baylor College of Medicine

Other

Collaborators

Children's National Research Institute
Hospital for Special Surgery, New York
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Oregon Health and Science University
Shriners Hospitals for Children
University of California, Los Angeles
University of Nebraska

Registry information

Important dates

Study start: 2016
Primary completion: 2027
Study completion: 2027
First posted: Oct 17, 2016
Registry last updated: Jan 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting