A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta

Wouter Nijhuis*, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch, Ralph Sakkers, Jean Pierre Salles, Oliver Semler, Jony SunMichael To, Laura Tosi, Yangyang Yao, Eric Hiu Kwong Yeung, Lidiia Zhytnik, Maria Carola Zillikens, Marjolein Verhoef

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

14 Citations (Scopus)


Background: Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future. Methods: The Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology. Results: More than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults. Conclusion: The Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.

Original languageEnglish
Article number140
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 20 Mar 2021

Bibliographical note

Funding Information:
Most work was done as a volunteer effort of all parties involved. Limited funding was provided by the Care4BrittleBones Foundation based on crowdfunding in the OI-community (no funding from industry).

Funding Information:
We gratefully acknowledge Dagmar Mekking and the Care4Brittle Bones Foundation for initiating and supporting this project. The Key4OI is owned by Foundation Care4BrittleBones on behalf of everyone who contributed to its development. We gratefully acknowledge Pauline Scholten for her support in the literature search, creating a database accessible to the entire working group and preparing the content for the meetings.

Publisher Copyright:
© 2021, The Author(s).


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