An article called “The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review” was published recently in Orphanet Journal of Rare Diseases. The purpose of this review was to capture and quantify the published evidence relating specifically to the clinical, humanistic, and economic impact of OI on individuals, their families, and wider society. Representatives from OIFE were included as co-authors. 

The review showed that bone conditions, anthropometric measurements, oral conditions, diagnostic techniques, use of pharmacotherapy, and physical functioning of adults and children with OI were well described.

However, few records included current care practice, diagnosis and monitoring, interactions with the healthcare system, or transition of care across life stages. Limited data on wider health concerns beyond bone health, how these concerns may impact health-related quality of life, in particular that of adult men and other family members, were identified.

Read the full article (open access) here.

This review represents a first step to identifying and then addressing uncovered data gaps so that we can more effectively describe the experience of OI for individuals, their families, and wider society. There will be more articles to come in 2023 and 2024. Read more about the IMPACT survey at our project page.

Thank you to all contributors for making this happen!