Slioui Abderhmane, Tammam Giulia, Vanoli Fiammetta, Marina Adela Della, Vohanka Stanislav, Gilhus Nils Erik, Moroni Isabella, Leite Maria Isabel, Piehl Fredrik, Antozzi Carlo, Pini Jonathan, Stascheit Frauke, Attarian Shahram, Santos Ernestina, Verschuuren Jan, Canonge Lou, Garcia Jeremy, Perriard Caroline, Cortés-Vicente Elena, Mantegazza Renato, Meisel Andreas, Sacconi Sabrina
Peripheral Nervous System and Muscle Department, Reference Center for Neuromuscular Disorders, Pasteur 2 Hospital, Centre Hospitalier, Universitaire de Nice, Nice University Hospital, SNPM - Hôpital Pasteur 2 - 30 voie Romaine, 06001, Nice CEDEX, France.
Department of Brain and Behavioral Sciences, University of Pavia, IRCCS Mondino Foundation, Pavia, Italy.
Orphanet J Rare Dis. 2025 Mar 11;20(1):115. doi: 10.1186/s13023-024-03520-3.
Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities across Europe. This highlights the need for high-quality data collection by stakeholders to establish MG registries. A European MG registry could help bridge the treatment access gap across different countries, offering critical data to support regulatory decisions, foster international collaborations, and enhance clinical and epidemiological research. Several national MG registries already exist or are in development. To avoid duplication and ensure harmonization in data collection, a modified Delphi procedure was implemented to identify essential data elements for inclusion in national registries.
Following a literature review, consultations with patient associations and pharmaceutical companies, and input from multiple European MG experts, 100 data elements were identified. Of these, 62 reached consensus for inclusion and classification, while only 1 item was agreed for exclusion. 30 items failed to reach the ≥ 80% agreement threshold and were excluded. Among the 62 accepted items, 21 were classified as mandatory data elements, 32 optional, and 9 items pertained to the informed consent form.
Through a modified Delphi procedure, consensus was successfully achieved. This consensus-based approach represents a crucial step toward harmonizing MG registries across Europe. The resulting dataset will facilitate the sharing of knowledge and enhance European collaborations. Furthermore, the harmonized data may assist in regulatory or reimbursement decisions regarding novel therapies, as well as address treatment access disparities between European countries.
重症肌无力(MG)是一种罕见的自身免疫性疾病。近年来出现了几种新的治疗理念,但由于各国报销规定不同,这些治疗方法的可及性存在差异,导致欧洲各地存在差异。这凸显了利益相关者收集高质量数据以建立MG登记册的必要性。欧洲MG登记册有助于弥合不同国家之间的治疗可及性差距,提供关键数据以支持监管决策、促进国际合作并加强临床和流行病学研究。已经存在或正在建立几个国家MG登记册。为避免重复并确保数据收集的一致性,实施了改进的德尔菲程序以确定纳入国家登记册的基本数据元素。
经过文献综述、与患者协会和制药公司的磋商以及多位欧洲MG专家的意见,确定了100个数据元素。其中,62个已达成共识,可纳入并分类,而只有1项被同意排除。30项未达到≥80%的一致同意阈值,因此被排除。在62项被接受的项目中,21项被列为强制性数据元素,32项为可选数据元素,9项与知情同意书有关。
通过改进的德尔菲程序,成功达成了共识。这种基于共识的方法是欧洲MG登记册协调统一的关键一步。由此产生的数据集将促进知识共享并加强欧洲的合作。此外,统一的数据可能有助于有关新疗法的监管或报销决策,以及解决欧洲国家之间的治疗可及性差异。