Clinical decision-making in rare bone diseases - A survey among members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND)

Thilini H Gamage; Silvia Coutinho; Alberto Leardini; Inês Alves; Nadine Großmann; Ralph Sakkers; Gemma Marcucci; Laura Masi; Maria Luisa Brandi; M Carola Zillikens; Giovanni Trisolino; Lena Lande Wekre; Joachim Horn

doi:10.1177/18632521261439074

Clinical decision-making in rare bone diseases - A survey among members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND)

J Child Orthop. 2026 Apr 21:18632521261439074. doi: 10.1177/18632521261439074. Online ahead of print.

Authors

Thilini H Gamage¹, Silvia Coutinho², Alberto Leardini³, Inês Alves^{4

5}, Nadine Großmann^{5

6

7}, Ralph Sakkers⁸, Gemma Marcucci⁹, Laura Masi¹⁰, Maria Luisa Brandi^{11

12}, M Carola Zillikens¹³, Giovanni Trisolino¹⁴, Lena Lande Wekre², Joachim Horn^{1

15}

Affiliations

¹ Division of Orthopaedics, Section of Children's Orthopaedics and Reconstructive Surgery, Oslo University Hospital, Oslo, Norway.
² Norwegian Centre for Rare Diseases, Unit Sunnaas, Bjørnemyr, Norway.
³ Movement Analysis Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
⁴ ANDO Portugal/ European reference Network for Rare Bone Diseases-ERN BOND, Evora, Portugal.
⁵ FOP e.V.,/International FOP Association (IFOPA)/ European reference Network for Rare Bone Diseases-ERN BOND, Berlin, Germany.
⁶ Free University of Berlin Institute of Chemistry and Biochemistry Berlin, Germany.
⁷ Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.
⁸ Orthopaedic Surgery, University Medical Centre Utrecht, Utrecht, the Netherlands.
⁹ Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
¹⁰ Metabolic Bone Diseases Unit, Musculoskeletal and Rehabilitation Department, University Hospital Careggi, Florence, Italy.
¹¹ Fondazione FIRMO Onlus (Italian Foundation for the Research on Bone Diseases), Florence, Italy.
¹² Endocrinology Unit, IRCCS San Raffaele Hospital, Milan, Italy.
¹³ Department of Internal Medicine, Erasmus MC, Erasmus MC University Medical Center Rotterdam, Rotterdam, the Netherlands.
¹⁴ Pediatric Orthopedics and Traumatology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
¹⁵ Institute for Clinical Medicine, University of Oslo, Oslo, Norway.

Abstract

Purpose: Clinical management of rare bone diseases (RBDs) is challenged by low prevalence, delayed diagnosis, and complex multidisciplinary needs. This survey aimed to map current clinical practices in RBDs, identify unmet needs, and generate foundational data to guide the development of minimum standards for patient assessment.

Methods: An anonymous online survey was distributed to members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND) in September 2025. Questions addressed diagnostic work-up, interdisciplinary care, transition practices, and future perspectives. Quantitative data were analysed descriptively, and free-text responses thematically.

Results: A total of 119 respondents (35 countries), mostly orthopaedic surgeons (74%), completed the survey. Almost all (118/119) provided direct care, and 63% had >10 years' experience treating RBDs. Over 80% routinely used anthropometric, posture, and alignment measures, whereas the use of advanced tools varied. Interdisciplinary care is widely applied at varying frequencies, with a high consideration for shared decision-making and quality of life. Most lacked registry access (>80%) and formal transition protocols (~70%). Respondents prioritised clinical frameworks over technological advances and anticipated increasing future relevance for technological innovations.

Conclusions: This survey highlights considerable variability in clinical decision-making for RBDs. The findings underscore the importance and need of standardised interdisciplinary care, registry data, and structured protocols and frameworks.

Study significance: This is the first systematic survey of clinical practice and decision-making process in RBD care among EPOS and ERN BOND members. The findings may guide future recommendations and standards, supporting more harmonised care for individuals with RBDs, especially ultra-rare conditions.

Keywords: Clinical practice; bone disorder; clinical practice survey; rare bone diseases; rare diseases.