The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.

Autor: van Welzenis T; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Westerheim I; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Hart T; Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway., Semler O; Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, University of Cologne, Cologne, Germany., Rauch F; McGill University, Montreal, Canada., Dewavrin L; Wickenstones Ltd, Oxford, Oxfordshire, UK. laetitia@wickenstones.com., Dadzie R; Wickenstones Ltd, Oxford, Oxfordshire, UK., Prince S; Wickenstones Ltd, Oxford, Oxfordshire, UK., Raggio C; Hospital for Special Surgery, New York, USA.
Jazyk: angličtina
Zdroj: BMC public health [BMC Public Health] 2024 Nov 28; Vol. 24 (1), pp. 3318. Date of Electronic Publication: 2024 Nov 28.
DOI: 10.1186/s12889-024-20555-0
Abstrakt: Background: The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society. Two previous publications report research methodology, initial insights of the survey, and cost of illness of OI. Here, we present data on the impact of OI on the quality of life (QoL) of adults with OI and explore potential drivers of this impact.
Methods: The IMPACT Survey was an international mixed methods online survey in eight languages (fielded July-September 2021), aimed at adults (aged ≥ 18 years) or adolescents (aged 12-17 years) with OI, caregivers (with or without OI) of individuals with OI, and other close relatives. Survey domains included demographics, socioeconomic factors, clinical characteristics, treatment patterns, QoL, and health economics. We conducted a descriptive analysis of the QoL data, as well as exploratory regression analyses to identify drivers of impact of OI on QoL (independent associations between patient characteristics and the impact on QoL).
Results: 1,440 adults with OI participated in the survey. The proportion who reported an impact of OI on their QoL across individual areas in the physical, socioeconomic, and mental well-being domains ranged between 49 and 84%. For instance, 84% of adults reported an impact of OI on the types of leisure activities they could do and 74% on the type of job they could do. More severe self-reported OI and higher fracture frequency were consistently identified as drivers of OI's impact on QoL. The proportion of adults who reported worrying about different aspects of their lives due to their OI, such as mobility loss, future fractures, and ageing, ranged between 31 and 97%.
Conclusion: IMPACT provides insights into the humanistic burden of OI on adults, revealing that OI has a substantial impact on the QoL of adults. OI severity and fracture frequency were consistently identified as drivers of impact on QoL across all domains. Understanding these drivers may aid in identifying areas for targeted interventions, such as fracture prevention.
Competing Interests: Declarations. Ethics approval and consent to participate: An ethics approval exemption was granted by Pearl IRB, Indianapolis, IN, USA on 23rd June 2021. The survey protocol is in line with the UK Research Integrity Office’s guidance on good practice in internet-mediated research [79].This online survey was anonymous and did not collect any identifiable data on individuals. Participants were provided with a data privacy statement and consented for their responses to be analysed. Consent for publication: Not applicable. Competing interests: LD and RD are employees of Wickenstones Ltd, Oxford, United Kingdom. SP is an employee of Mereo BioPharma Group, London, United Kingdom. At the time of the survey design and development of this report, SP was an employee of Wickenstones Ltd. CR has received payments for their contributions to the present manuscript. TH serves as the Chief Executive Officer of the Osteogenesis Imperfecta Foundation, which has received unrestricted educational grants from Mereo BioPharma Group London, United Kingdom and Ultragenyx Pharmaceuticals Inc, Novato, USA. OS has participated in a national advisory board for Mereo BioPharma Group London, United Kingdom and has received study contracts for clinical studies from Ultragenyx Pharmaceuticals Inc, Novato, USA. FR has received study contracts for experimental preclinical studies with Precithera Inc, Quebec, Canada, Mesentech Inc, Vancouver, Canada and Catabasis Pharmaceuticals Inc, Cambridge, USA. He has participated in advisory boards for Ultragenyx Pharmaceuticals Inc, Novato, USA, Sanofi S.A. Paris, France, Novartis International AG, Basel, Switzerland and Mereo BioPharma Group, London, United Kingdom. FR has received a speaker fee from Ultragenyx Pharmaceuticals Inc, Novato, USA for a lecture and received a donation of experimental drugs for a preclinical study from Acceleron Pharma Inc, Cambridge, USA. CR received an institutional grant from and has been a speaker for BioMarin Pharmaceuticals Inc, Novato, California, has participated in advisory boards for Ultragenyx Pharmaceuticals Inc, Novato, USA. She has received an institutional grant from and is a consultant for Nextcure, Beltville, MD, USA. CR sits on the board of directors of the Osteogenesis Imperfecta Foundation. CR has also participated in an advisory board for Mereo BioPharma Group, London, United Kingdom. TW and IW hold leadership positions in the Osteogenesis Imperfecta Federation Europe, which has received grants from Mereo BioPharma Group, London, United Kingdom (unrestricted), Ultragenyx Pharmaceuticals Inc, Novato, USA (restricted grant for a conference), Quince Therapeutics Inc, San Francisco, CA, USA (donation for a conference), UCB (restricted grant to conference), Angitia Biopharmaceuticals Inc., Woodland Hills, CA, USA (donation to conference), Azafaros BV, Naarden, the Netherlands (donation to conference), Alexion Inc. Boston, MA, USA, (sponsorship of conference); Pega Medical Inc, Laval, Quebec, Canada (donation), PuREC, Shimane, Japan (sponsorship of conference), Takeda, Tokyo, Japan (payment to IW as a panellist; donated to OIFE).
(© 2024. The Author(s).)
Databáze: MEDLINE
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