The Brittle Bone Disorders Rare Disease Clinical Research Consortium (BBD RDCRC) clinical project 1 is a longitudinal study of Osteogenesis Imperfecta (OI). There are over 13 genetic disorders that contribute to the spectrum of OI. There is great need to understand the natural histories of these conditions as correlated to genotype as these disorders are being defined by their underlying molecular etiologies.

We will:

    1. Evaluate the difference in phenotype, disease progression and response to therapies in individuals with dominant and recessive forms of OI to assess the natural history of these disorders.
    2. Describe the incidence of vertebral fractures in type I collagen haploinsufficient OI (OI-HI or OI type I) through a prospective, multi-center observational study, and evaluate the impact of clinical susceptibility factors on the development of incident vertebral fractures.
    3. Describe the natural history of scoliosis in various forms of OI and assess the characteristics predisposing to progression of the deformity, effects of scoliosis on pulmonary function, mobility & quality of life and impact of scoliosis interventions (bracing, surgery, etc.) on scoliosis and pulmonary function.
    4. Characterize the effect of pregnancy on bone in individuals with OI.
    5. Evaluate dental malocclusion & craniofacial abnormalities and determine the dynamic changes over time and impact upon oral-health related quality of life.

The BBD RDCRC Clinical Project 1 will be performed by all 8 clinical sites of the consortium. Drs. Frank Rauch at the Montreal Shriners Hospital for Children and Dr. V. Reid Sutton at Baylor College of Medicine will be the co-PIs of the overall longitudinal study.

BBD Active Studies:


BBD Completed Studies:


BBD Upcoming Studies:



Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.