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。

IF 3.4 2区 医学 Q2 GENETICS & HEREDITY
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}
引用次数: 0

摘要

背景:成骨不全症(Osteogenesis Imperfecta, OI)是一种罕见的遗传性疾病,其特征是骨骼脆弱和易骨折。目前尚无根治性治疗方法,适应性体力活动(APA)的效果数据有限。本研究评估了APA对成骨不全儿童骨骼健康、身体功能、呼吸功能和生活质量的影响。方法:MOVE-OI试验(NCT04119388)是一项前瞻性单中心研究,评估12个月个体化APA计划的影响。纳入标准包括确诊的成骨不全致病变异,年龄6-18岁。基线(M0)和终点(M12)评估包括临床、放射学和呼吸系统评估。主要结果是6分钟步行测试(6MWT)距离的改善。采用非参数配对检验进行分析。结果:30名参与者(16名男性,中位年龄10.5岁)完成了该计划。6MWT距离增加了17% (p = 0.0007),平均提高了98米。未发现明显的骨密度或呼吸功能改变。骨折发生率下降(从40%降至20%),生活质量在基线难度评分较高的参与者中得到改善。结论:APA可改善成骨不全患儿的耐力和体能。需要多学科护理和进一步研究来提高长期疗效。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases 医学-医学:研究与实验
CiteScore
6.30
自引率
8.10%
发文量
418
审稿时长
4-8 weeks
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信