Evaluation of the benefits of adapted physical activity in children and adolescents with osteogenesis imperfecta: the MOVE-OI trial.

Sacha Flammier, Justine Bacchetta, Hayssam Al Arab, Morgane Espitalier, Marine Fouillet-Desjonqueres

Journal: Orphanet journal of rare diseases 2025;20(1):175

PMID: 40221747

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Abstract

BACKGROUND

Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by bone fragility and susceptibility to fractures. No curative treatment currently exists, and limited data are available on the effects of adapted physical activity (APA). This study evaluates the impact of APA on bone health, physical function, respiratory function, and quality of life in pediatric children with OI.

METHODS

The MOVE-OI trial (NCT04119388) is a prospective single-center study assessing the impact of a 12-month individualized APA program. Inclusion criteria included confirmed OI pathogenic variant, ages 6-18 years. Baseline (M0) and end-point (M12) assessments included clinical, radiological, and respiratory evaluations. The primary outcome was an improvement in the 6-min walk test (6MWT) distance. A non-parametric paired-test was performed for analysis.

RESULTS

Thirty participants (16 males, median age 10.5 years) completed the program. A 17% increase in the 6MWT distance (p = 0.0007) was observed, with an average improvement of 98 m. No significant bone density or respiratory function changes were detected. Fracture incidence decreased (from 40 to 20%), and quality-of-life improvements were noted in participants with high baseline difficulty scores.

CONCLUSION

APA improves endurance and physical capacity in children with OI. Multidisciplinary care and further research are needed to enhance long-term outcomes.

Address: Department of Pediatric Nephrology, Rheumatology and Dermatology, Hôpital Femme Mère Enfant, Bron, France. [email protected].; Department of Pediatric Nephrology, Rheumatology and Dermatology, Hôpital Femme Mère Enfant, Bron, France.; Reference Center for Rare Calcium and Phosphate Diseases, OSCAR Network, European Network for Rare Bone Diseases BOND, Bron, France.; INSERM Research Unit 1033 LYOS, Lyon 1 University, Lyon, France.; Department of Pediatric Nephrology, Rheumatology and Dermatology, Hôpital Femme Mère Enfant, Bron, France.; Department of Pediatric Nephrology, Rheumatology and Dermatology, Hôpital Femme Mère Enfant, Bron, France.; Reference Center for Rare Calcium and Phosphate Diseases, OSCAR Network, European Network for Rare Bone Diseases BOND, Bron, France.; Competence Center for Constitutional Bone Diseases, OSCAR Network, Bron, France.

DOI: 10.1186/s13023-025-03678-4

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MeSH Terms: Humans, Osteogenesis Imperfecta, Child, Adolescent, Male, Female, Exercise, Quality of Life, Prospective Studies, Bone Density, Walk Test