Key4OI Recommendations for Lung Function Guidance in Osteogenesis Imperfecta Based on an Internationally Performed Comprehensive ICHOM Procedure


Hollis Chaney, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA; Division of Pulmonary and Sleep Medicine, Children's National Hospital, Washington, DC, USA.
Dagmar Mekking, Care4BrittleBones Foundation, Wassenaar, The Netherlands. Electronic address:
Danielle De Bakker, Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research, W. M. Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Eliezer Beeri, Respiratory Rehabilitation Unit, Alyn Hospital, Jerusalem, Israel.
E Marelise Eekhoff, Department of Internal Medicine, Section Endocrinology, Amsterdam University Medical Center (Amsterdam UMC), Amsterdam Rare Bone Disease Center / Amsterdam Bone Center, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Anton Franken, Department of Internal Medicine, Isala, Zwolle, The Netherlands.
Otto Kamp, Department of Cardiology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Dimitra Micha, Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam Rare Bone Disease/Amsterdam Bone Center, Amsterdam University Medical Center, location VUmc, Amsterdam, Netherlands.
Céu Barreiros, Hospital Santa Maria, Lisbon, Portugal.
Ben Tomlow, Department of Pulmonary Medicine, Isala Klinieken, Zwolle, the Netherlands.
Joost G. Van den Aardweg, Department of Respiratory Medicine, Amsterdam University Medical Centers, location AMC, Amsterdam, Netherlands.
Antonella LoMauro, Dipartimento di Elettronica, Informazione e Bioingegneria, Politecnico di Milano, Milan, Italy.
Lars Folkestad, Department of Endocrinology, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark.

Document Type

Journal Article

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Osteogenesis Imperfecta; Patient-reported outcomes; measuring instruments; pulmonary function


INTRODUCTION: Pulmonary involvement in Osteogenesis Imperfecta (OI) can be severe but may be overlooked in milder cases. The Care4BrittleBones Foundation initiated this project to develop a set of global outcome measures focusing on respiratory-related issues in patients with OI. The objective was to reach an international consensus for a standardized set of outcomes and associated measuring instruments for the pulmonary care of individuals with OI. Based on the initial tests and questionnaires, we suggest parameters for when pulmonologists should seek guidance from the growing literature on OI pulmonary care and/or recognized experts in the field. International Consortium for Health Outcomes Measurement (ICHOM) METHODS: The project team consisted of a multidisciplinary mix of 12 people from 6 countries, including an OI patient representative and facilitated by the Care4BrittleBones Foundation director. The International Consortium for Health Outcomes Measurement (ICHOM) process was followed, which includes the Delphi method, used to collect the opinions of the expert team. Patient input was present in each meeting due to the inclusion of a patient representative. In addition, online focus groups were held. They consed of adults with OI from different countries and they determined which questions matter the most to the OI community worldwide. RESULTS: After 3 Delphi rounds, the expert team reached a consensus on the final set of measuring instruments, which included pulmonary function testing and patient self-reporting of symptoms related to breathing and sleep. Two questionnaires were decided upon: St. George's Respiratory Questionnaire (shortened version) and four questions regarding sleep. Patients should be screened for a history of pneumonia. Advanced testing for select patients by a pulmonologist would include further pulmonary function tests and a chest x-ray. CONCLUSIONS: A standardized set of outcome measures related to pulmonary care of individuals with OI was determined based on what is important to both experts and patients. This included patient-reported outcome measures and basic pulmonary function testing. Using these outcome measures, it can be determined which patients are at high risk for pulmonary complications.