Clinical Research Directory

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 the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency. Scoliosis in OI component: Inclusion Criteria * All study participants between the ages of 3 to 17 years OR * Study participants 18 years and older with scoliosis Dental and Craniofacial Abnormalities in OI component: Inclusion Criteria • All subjects aged 3 years and older enrolled in the Longitudinal Study Exclusion Criteria Subjects who refuse the dental examination Pregnancy in OI component: Inclusion criteria • Females of reproductive age with mutations in any known gene causing OI, who are contemplating pregnancy within 5 years of enrollment in the Natural History Study OR Females who are pregnant with available pre-pregnancy BMD (within 5 years prior to the first pregnancy visit). Exclusion criteria * Males * Females who are peri-menopausal or menopausal * Females who had gestations associated with higher order multiples.