Lisa Schäfer, Astrid Unterlauft, Brit Froebrich-Andreß, Carolin Wollny, Marie Rößler, Ronja Fischer, Carla Bähr, Julia Lier, Daniel T Wasmus, Christa-Caroline Bergner, Wolfgang Köhler
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X-linked adrenoleukodystrophy (X-ALD) is a genetic RD leading to demyelination of the central and peripheral nervous system.</p><p><strong>Objectives: </strong>This randomized-controlled trial tested the feasibility, acceptance, and effectiveness of a multidisciplinary online intervention provided by a CoE on the quality of life (QoL) and well-being of symptomatic women with X-ALD.</p><p><strong>Design: </strong>Single-center, randomized-controlled clinical trial involving 68 German-speaking women with symptomatic X-ALD.</p><p><strong>Methods: </strong>Participants were randomized into an experimental group (EG, <i>n</i> = 34) receiving 12-month online intervention SMART-ALD and a waiting-list control group (WL-CG, <i>n</i> = 34) receiving 6-month SMART-ALD after a 6-month waiting period. Within SMART-ALD, participants were offered regular web-based neurological, social, psychological, and nutritional counseling and fitness training provided by the Leukodystrophy Outpatient Clinic at Leipzig, Germany. Group, time, and interaction effects on primary (self-reported QoL) and secondary (physical and mental health) outcomes after 6-month SMART-ALD were tested by repeated measures ANOVAs.</p><p><strong>Results: </strong>One WL-CG participant dropped out after the waiting period and was excluded from the final analysis. Significant QoL improvements in the EG versus WL-CG were found on self-reported mental health (mean difference (MD): 5.4, 95% confidence interval (CI) (2.8, 13.6), <i>p</i> = 0.020, η<sup>2</sup> = 0.08) and vitality (MD: 8.8, 95% CI (0.1, 17.4), <i>p</i> = 0.002, η<sup>2</sup> = 0.14). Further significant interaction effects emerged for improved knowledge about nutrition (MD: 0.4, 95% CI (-0.7, 1.4), <i>p</i> = 0.002, η<sup>2</sup> = 0.15), socio-medical benefits (MD: 1.8, 95% CI (0.5, 3.0), <i>p</i> = 0.033, η<sup>2</sup> = 0.07), and intense physical activity (MD: 2.2, 95% CI (-3.9, 8.4), <i>p</i> = 0.024, η<sup>2</sup> = 0.10).</p><p><strong>Conclusion: </strong>The study shows that easily accessible, multidisciplinary online interventions provided by the CoE have the potential to improve the QoL in people with RDs by providing regular access to specialized care.</p><p><strong>Trial registration: </strong>This study was registered on ClinicalTrials.gov (https://clinicaltrials.gov/study/NCT04687007).</p>","PeriodicalId":22980,"journal":{"name":"Therapeutic Advances in Neurological Disorders","volume":"18 ","pages":"17562864251376109"},"PeriodicalIF":4.1000,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477361/pdf/","citationCount":"0","resultStr":"{\"title\":\"Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial.\",\"authors\":\"Lisa Schäfer, Astrid Unterlauft, Brit Froebrich-Andreß, Carolin Wollny, Marie Rößler, Ronja Fischer, Carla Bähr, Julia Lier, Daniel T Wasmus, Christa-Caroline Bergner, Wolfgang Köhler\",\"doi\":\"10.1177/17562864251376109\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>People with rare diseases (RDs) often require intensive multidisciplinary care in disease-specific centers of excellence (CoE). 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引用次数: 0
摘要
背景：患有罕见病（rd）的人通常需要在特定疾病卓越中心（CoE）进行密集的多学科护理。然而，对于大多数生活在偏远地区的患者来说，获得医疗服务是有限的。x -连锁肾上腺脑白质营养不良（X-ALD）是一种导致中枢和周围神经系统脱髓鞘的遗传性RD。目的：这项随机对照试验测试了CoE提供的多学科在线干预对有症状的X-ALD女性生活质量（QoL）和幸福感的可行性、可接受性和有效性。设计：单中心、随机对照临床试验，涉及68名有症状性X-ALD的德语女性。方法：将参与者随机分为实验组（EG, n = 34）和等候组（WL-CG, n = 34），实验组接受12个月的在线干预SMART-ALD，等候组（WL-CG, n = 34）在6个月的等待期后接受6个月的SMART-ALD。在SMART-ALD中，参与者接受由德国莱比锡白质萎缩症门诊提供的定期网络神经、社会、心理和营养咨询和健身训练。通过重复测量anova检验6个月后SMART-ALD对主要（自我报告的生活质量）和次要（身心健康）结局的组、时间和相互作用的影响。结果：1名WL-CG参与者在等待期后退出，被排除在最终分析之外。EG组与WL-CG组相比，在自我报告的心理健康（平均差异（MD）： 5.4, 95%可信区间（CI） （2.8, 13.6）， p = 0.020, η2 = 0.08）和活力（MD: 8.8, 95% CI (0.1, 17.4), p = 0.002, η2 = 0.14）方面的生活质量均有显著改善。进一步显著的交互作用出现在改善营养知识（MD: 0.4, 95% CI (-0.7, 1.4), p = 0.002, η2 = 0.15）、社会医疗效益（MD: 1.8, 95% CI (0.5, 3.0), p = 0.033, η2 = 0.07）和高强度体育活动（MD: 2.2, 95% CI (-3.9, 8.4), p = 0.024, η2 = 0.10）。结论：该研究表明，CoE提供的易于获取的多学科在线干预措施有可能通过提供定期的专业护理来改善rd患者的生活质量。试验注册：本研究已在ClinicalTrials.gov （https://clinicaltrials.gov/study/NCT04687007）上注册。
Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial.
Background: People with rare diseases (RDs) often require intensive multidisciplinary care in disease-specific centers of excellence (CoE). However, access is limited for most patients living remotely. X-linked adrenoleukodystrophy (X-ALD) is a genetic RD leading to demyelination of the central and peripheral nervous system.
Objectives: This randomized-controlled trial tested the feasibility, acceptance, and effectiveness of a multidisciplinary online intervention provided by a CoE on the quality of life (QoL) and well-being of symptomatic women with X-ALD.
Design: Single-center, randomized-controlled clinical trial involving 68 German-speaking women with symptomatic X-ALD.
Methods: Participants were randomized into an experimental group (EG, n = 34) receiving 12-month online intervention SMART-ALD and a waiting-list control group (WL-CG, n = 34) receiving 6-month SMART-ALD after a 6-month waiting period. Within SMART-ALD, participants were offered regular web-based neurological, social, psychological, and nutritional counseling and fitness training provided by the Leukodystrophy Outpatient Clinic at Leipzig, Germany. Group, time, and interaction effects on primary (self-reported QoL) and secondary (physical and mental health) outcomes after 6-month SMART-ALD were tested by repeated measures ANOVAs.
Results: One WL-CG participant dropped out after the waiting period and was excluded from the final analysis. Significant QoL improvements in the EG versus WL-CG were found on self-reported mental health (mean difference (MD): 5.4, 95% confidence interval (CI) (2.8, 13.6), p = 0.020, η2 = 0.08) and vitality (MD: 8.8, 95% CI (0.1, 17.4), p = 0.002, η2 = 0.14). Further significant interaction effects emerged for improved knowledge about nutrition (MD: 0.4, 95% CI (-0.7, 1.4), p = 0.002, η2 = 0.15), socio-medical benefits (MD: 1.8, 95% CI (0.5, 3.0), p = 0.033, η2 = 0.07), and intense physical activity (MD: 2.2, 95% CI (-3.9, 8.4), p = 0.024, η2 = 0.10).
Conclusion: The study shows that easily accessible, multidisciplinary online interventions provided by the CoE have the potential to improve the QoL in people with RDs by providing regular access to specialized care.
Trial registration: This study was registered on ClinicalTrials.gov (https://clinicaltrials.gov/study/NCT04687007).
期刊介绍：
Therapeutic Advances in Neurological Disorders is a peer-reviewed, open access journal delivering the highest quality articles, reviews, and scholarly comment on pioneering efforts and innovative studies across all areas of neurology. The journal has a strong clinical and pharmacological focus and is aimed at clinicians and researchers in neurology, providing a forum in print and online for publishing the highest quality articles in this area.
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