Hayssam Al Arab, Sacha Flammier, Morgane Espitalier, Justine Bacchetta, Marine Fouillet-Desjonqueres
{"title":"评估儿童和青少年成骨不全患者适应性体育活动的益处:MOVE-OI试验。","authors":"Hayssam Al Arab, Sacha Flammier, Morgane Espitalier, Justine Bacchetta, Marine Fouillet-Desjonqueres","doi":"10.1186/s13023-025-03678-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>APA improves endurance and physical capacity in children with OI. Multidisciplinary care and further research are needed to enhance long-term outcomes.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"175"},"PeriodicalIF":3.4000,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11992861/pdf/","citationCount":"0","resultStr":"{\"title\":\"Evaluation of the benefits of adapted physical activity in children and adolescents with osteogenesis imperfecta: the MOVE-OI trial.\",\"authors\":\"Hayssam Al Arab, Sacha Flammier, Morgane Espitalier, Justine Bacchetta, Marine Fouillet-Desjonqueres\",\"doi\":\"10.1186/s13023-025-03678-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>APA improves endurance and physical capacity in children with OI. Multidisciplinary care and further research are needed to enhance long-term outcomes.</p>\",\"PeriodicalId\":19651,\"journal\":{\"name\":\"Orphanet Journal of Rare Diseases\",\"volume\":\"20 1\",\"pages\":\"175\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2025-04-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11992861/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orphanet Journal of Rare Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13023-025-03678-4\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orphanet Journal of Rare Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13023-025-03678-4","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Evaluation of the benefits of adapted physical activity in children and adolescents with osteogenesis imperfecta: the MOVE-OI trial.
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.
期刊介绍:
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.