Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta
Baylor College of Medicine
Summary
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.
Description
The purpose of this natural history study is to perform a long-term follow-up of a large group of people with osteogenesis imperfecta (OI). The research aims are: 1. To collect natural history data on all individuals enrolled in this longitudinal study. The cause of the brittle bone disease will be compared with things like severity, various features and response to treatments. 2. To determine how often people with type I OI have vertebral compression fractures of the spine. 3. To determine how often people with OI develop scoliosis (curvature of the spine). 4. To determine how often people w…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Natural History Study: Inclusion 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 Exclusion criteria: * 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 Vertebral Compression Fractures component Inclusion criteria • Patients with nonsense or frameshift mutations in…
Locations (12)
- Phoenix Children's HospitalPhoenix, Arizona
- University of California Los AngelesLos Angeles, California
- AI Dupont Hospital for ChildrenWilmington, Delaware
- Children's National Medical CenterWashington D.C., District of Columbia
- University of South FloridaTampa, Florida
- Kennedy Krieger Institute / Hugo W. Moser Research InstituteBaltimore, Maryland