Long-Term Study of Osteogenesis Imperfecta to Understand Disease Progression and Effects on Bone, Spine, Teeth, and Pregnancy

What this Trial Is About

Osteogenesis Imperfecta OI is a rare condition causing fragile bones that break easily, along with dental problems and hearing loss in adults. It affects people of all genders and races, with symptoms ranging from severe deformities and mobility issues to mild cases with few fractures. This research studies the natural history of OI by following a large group of people over time to better understand how the disease progresses and varies by genetic cause. This observational study will follow up to 1000 participants with OI for up to five years. Participants aged 17 and younger will visit the study center every year, while adults 18 and older will come every other year. During visits, researchers will collect medical history, evaluate scoliosis and walking ability, assess dental health, and perform physical exams, lung function, hearing, and mobility tests. Imaging such as DEXA scans and X-rays of the spine and jaw will be taken, along with urine and blood samples. Participants will be monitored through yearly or biennial visits depending on age, completing questionnaires about quality of life and physical function. The study aims to track outcomes such as scoliosis development, vertebral fractures, oral health, and pregnancy effects in women with OI. Safety and progression of the disease will be followed for up to ten years, providing valuable long-term data on this rare bone disorder.

BBD Longitudinal Study of Osteogenesis Imperfecta