Verbeeck Johan, Geroldinger Martin, Nyberg Joakim, Thiel Konstantin E, Hooker Andrew C, Bathke Arne C, Bauer Johann W, Molenberghs Geert, Laimer Martin, Zimmermann Georg
I-BioStat, Hasselt University, Martelarenlaan 4, 3500, Hasselt, Belgium.
Team Biostatistics and Big Medical Data, IDA Lab Salzburg, Paracelsus Medical University, Strubergasse 21, 5020, Salzburg, Austria.
Orphanet J Rare Dis. 2025 Jun 5;20(1):277. doi: 10.1186/s13023-025-03805-1.
Rare diseases present critical challenges to healthcare systems, patients, and caregivers due to their low prevalence and unique characteristics. Designing clinical trials and developing statistical methodologies for evaluating interventions in rare diseases face several challenges. The "EBStatMax" project, part of the European Joint Programme on Rare Diseases' Demonstration Projects, aimed to address one of these challenges, namely: designing and analyzing longitudinal cross-over data in rare diseases, like Epidermolysis bullosa simplex (EBS). Although the main findings of the project have been published elsewhere, this manuscript reflects on additional hurdles encountered during the project, particularly regarding outcomes and methodological considerations. It explores issues surrounding outcome measurement, statistical methodology, and clinical considerations, emphasizing their broader relevance to methodological advancements in rare disease research beyond this specific case. This manuscript highlights the critical role of international collaboration in rare disease research to enhance evidence quality and aims to inspire further advancements in the field.
罕见病因其低患病率和独特特征，给医疗系统、患者及护理人员带来了严峻挑战。设计针对罕见病干预措施评估的临床试验并开发统计方法面临诸多挑战。“EBStatMax”项目是欧洲罕见病联合计划示范项目的一部分，旨在应对其中一项挑战，即：设计和分析罕见病（如单纯性大疱性表皮松解症，EBS）的纵向交叉数据。尽管该项目的主要研究结果已在其他地方发表，但本手稿反思了项目期间遇到的其他障碍，特别是在结局和方法学考量方面。它探讨了围绕结局测量、统计方法和临床考量的问题，强调了它们对此特定案例之外的罕见病研究方法学进步的更广泛相关性。本手稿强调了国际合作在提高罕见病研究证据质量方面的关键作用，并旨在激发该领域的进一步发展。
