ESPEYB21 5. Bone, Growth Plate and Mineral Metabolism Advances in Clinical Practice (6 abstracts)
5.5. The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Westerheim , Ingunn , Tracy Hart , Taco van Welzenis , Lena Lande Wekre , Oliver Semler , Cathleen Raggio , Michael B. Bober , Maria Rapoport , Samantha Prince & Frank Rauch
Orphanet Journal of Rare Diseases 20241; 9(1): 128. doi: 10.1186/s13023-024-03126-9
In brief: The IMPACT Survey collected a comprehensive dataset (including demographics, clinical characteristics and clinical signs, symptoms and events and their impact) on the experience of individuals with osteogenesis imperfecta (OI) (n=2312 individuals across self- and proxy reports), and their caregivers (n=560). Individuals with OI reported numerous and evolving symptoms that affect their quality of life, notably pain and fatigue, which are consistently present.
Commentary: Osteogenesis imperfecta (OI) is a rare genetic skeletal disorder mainly caused by pathogenic variants in the type 1 collagen gene that results in bone fragility with fractures, bone deformities, and short stature. Patients may also present with extraosseous manifestations, including dentinogenesis imperfecta, hearing loss, joint hypermobility, blue sclerae, and cardiac/respiratory defects. Currently, treatment is mainly symptomatic, as part of a multidisciplinary approach to promote mobility and limit pain, fractures and bone deformities. Given the multi-systemic and chronic nature of the disease, there is a significant impact on quality of life, in terms of the physical, emotional and psychological aspects for individuals with OI, as well as their families and caregivers. However, to date, data on health-related quality of life are incomplete, relate to small cohorts and usually do not assess the impact on their families and caregivers.
The value of this survey is to provide a comprehensive dataset on the experience of individuals with OI and their caregivers. This has been achieved through an ambitious and self-driven collaboration between the clinical and OI communities. Upcoming analyses will provide further insights into the economic impact, healthcare journey and caregiver wellbeing, with the aim of contributing to improved treatment and care for the OI community. This survey may serve as a model for other rare genetic diseases.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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