BBD Longitudinal Study of Osteogenesis Imperfecta

Description

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

Study Overview

Study Details

Study overview

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.

Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta

BBD Longitudinal Study of Osteogenesis Imperfecta

Condition
Osteogenesis Imperfecta
Intervention / Treatment

-

Contacts and Locations

Phoenix

Phoenix Children's Hospital, Phoenix, Arizona, United States, 85016

Los Angeles

University of California Los Angeles, Los Angeles, California, United States, 90095

Wilmington

AI Dupont Hospital for Children, Wilmington, Delaware, United States, 19803

Washington

Children's National Medical Center, Washington, District of Columbia, United States, 21205

Tampa

University of South Florida, Tampa, Florida, United States, 33620

Baltimore

Kennedy Krieger Institute / Hugo W. Moser Research Institute, Baltimore, Maryland, United States, 21205

Omaha

University of Nebraska Medical Center, Omaha, Nebraska, United States, 68198

New York

Hospital for Special Surgery, New York, New York, United States, 10021

Portland

Oregon Health and Science University, Portland, Oregon, United States, 97239

Houston

Baylor College of Medicine, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Individuals with OI diagnosed by molecular (DNA) analysis OR
  • * Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies
  • * Individuals who are unable to return for their scheduled follow up visits.
  • * Individuals with skeletal dysplasias other than OI
  • * Individuals with OI and a second genetic or syndromic diagnosis
  • * Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.
  • * Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and/or bone development (i.e. cerebral palsy, rickets)
  • * Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency.
  • * All study participants between the ages of 3 to 17 years OR
  • * Study participants 18 years and older with scoliosis
  • * Males
  • * Females who are peri-menopausal or menopausal
  • * Females who had gestations associated with higher order multiples.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Baylor College of Medicine,

V. Reid Sutton, M.D., STUDY_CHAIR, Baylor College of Medicine

Frank Rauch, M.D., STUDY_CHAIR, McGill University

Study Record Dates

2026-12