Trial Parameters
Brief 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.
Eligibility Criteria
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 COL1A1 or COL1A2 of any age and clinical features of OI type I. Exclusion criteria * 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 t