The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

Abstract

Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, and an array of secondary features. 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. Methods A systematic scoping review of 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry, PEDE, ScHARRHUd, Orphanet and Google Scholar), supplemented by hand searches of grey literature, was conducted to identify OI literature published 1st January 1995–18th December 2021. Searches were restricted to English language but without geographical limitations. The quality of included records was assessed using the AGREE II checklist and an adapted version of the JBI cross-sectional study checklist. Results Of the identified 7,850 records, 271 records of 245 unique studies met the inclusion criteria; overall, 168 included records examined clinical aspects of OI, 67 provided humanistic data, 6 reported on the economic impact of OI, and 30 provided data on mixed outcomes. 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. Few records described fatigue in children or adults. Markedly few records provided data on the socioeconomic impact of OI on patients and their caregivers, and associated costs to healthcare systems, and wider society. Most included records had qualitative limitations. Conclusion Despite the rarity of OI, the volume of recently published literature highlights the breadth of interest in the OI field from the research community. However, significant data gaps describing the experience of OI for individuals, their families, and wider society warrant further research to capture and quantify the full impact of OI.

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

“…While OI is equally prevalent in men and women, most direct respondents to the survey were female. This is in line with past patient-reported outcomes research in OI, where an increased participation of women with OI and female caregivers is common [ 9 ]. Most direct respondents were from Europe and European respondents made up > 50% of participants.…”

“…This was achieved through an ambitious and self-driven collaboration between the clinical and OI communities, aided by third-party funding from a pharmaceutical manufacturer. Past research on the impact of OI on individuals and their caregivers has been limited by small sample sizes and did not cover the breadth of topics included in IMPACT [ 6 , 7 , 9 , 18 , 19 ]. Therefore, IMPACT was designed as an online survey to maximise accessibility across geographies and included questions covering a breadth of topics exploring the clinical, humanistic, and economic impact of OI that may be insufficiently documented in the existing literature.…”

“…Questions that could potentially address evidence gaps identified in a scoping literature review [ 9 ], that were most relevant to the OI and research community and most suitable to survey-based research, were prioritised. The questionnaire was drafted and reviewed in English and professionally translated into German, Italian, Dutch, French, Russian, Spanish (both South American and European) and Portuguese.…”

“…Similarly, the impact on some caregivers of individuals with OI is incompletely understood, particularly fathers and siblings [ 9 ]. In addition, as most HRQoL studies are cross-sectional and use small samples, our understanding of the HRQoL of individuals with OI at different life stages is limited [ 7 , 9 ]…”

Dental abnormalities in rare genetic bone diseases: Literature review

“…They also reported that 33% of OI patients had at least one unerupted tooth and that the prevalence of tooth eruption was associated with disease severity because type III patients showed the highest prevalence of unerupted teeth (70%), followed by type IV (40%), and type I (30%) (Taqi et al, 2021). Thus, treatment is challenging because the dental phenotypes vary according to the type of OI (Marini & Dang Do, 2000; Okawa et al, 2017; Rapoport et al, 2023). Compared to patients with type I OI, types III, and IV patients require more special intervention in their primary dentition because of more severe dentinogenesis imperfecta.…”