The Brittle Bone Disorders Rare Disease Clinical Research Consortium is a multi–center initiative that focuses on understanding and providing better treatment options for rare diseases characterized by bone fragility and fractures, also known as Osteogenesis Imperfecta (OI).
The consortium has three primary goals: 1) to gain a better understanding of all genetic forms of OI; 2) to expand treatment options; and 3) to implement training programs for the next generation of physicians and scientists in the area of genetic bone disease.
Our investigators at UNMC and Children's lead a multidisciplinary, patient-centered OI clinic that includes physical therapy, occupational therapy, nutrition, dental and social work and that is now one of the largest in North America. A recent 5-year renewal of funding through the NIH Rare Diseases Clinical Research Network ensures that the OI clinic at Children’s Hospital and UNMC will continue serving OI patients and facilitating clinical research in OI treatment.
The BBD Consortium 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.
- 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.
- 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.
- 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.
- Characterize the effect of pregnancy on bone in individuals with OI.
- Evaluate dental malocclusion & craniofacial abnormalities and determine the dynamic changes over time and impact upon oral-health related quality of life.