Pub Date : 2026-03-20DOI: 10.1186/s13023-026-04312-7
Andrew Chan, Monika Kaempf, Wolfgang N Löscher, John Vissing, Johan Voerman, Eva Frostell-Pyhäjärvi, Sari Atula
{"title":"Bridging the gap between patient and physician perspectives on management of generalized myasthenia gravis: a Delphi consensus study.","authors":"Andrew Chan, Monika Kaempf, Wolfgang N Löscher, John Vissing, Johan Voerman, Eva Frostell-Pyhäjärvi, Sari Atula","doi":"10.1186/s13023-026-04312-7","DOIUrl":"https://doi.org/10.1186/s13023-026-04312-7","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-20DOI: 10.1186/s13023-026-04318-1
Juan Carlos Zenteno, Vianey Ordoñez-Labastida, Luis Montes-Almanza, Froylan Garcia-Martinez, Alejandro Martinez-Herrera, David Carreño-Bolaños, Rocio Arce-Gonzalez, Oscar F Chacón-Camacho
{"title":"The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).","authors":"Juan Carlos Zenteno, Vianey Ordoñez-Labastida, Luis Montes-Almanza, Froylan Garcia-Martinez, Alejandro Martinez-Herrera, David Carreño-Bolaños, Rocio Arce-Gonzalez, Oscar F Chacón-Camacho","doi":"10.1186/s13023-026-04318-1","DOIUrl":"https://doi.org/10.1186/s13023-026-04318-1","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-20DOI: 10.1186/s13023-026-04314-5
Ye Zhao, Duowu Zou
{"title":"Advances in hereditary angioedema in the modern treatment era in China: a focus on diagnosis, treatment, and prognosis.","authors":"Ye Zhao, Duowu Zou","doi":"10.1186/s13023-026-04314-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04314-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-20DOI: 10.1186/s13023-026-04303-8
Myrl Holida, Aleš Linhart, Nicola Longo, Eric Wallace, Camilla Tøndel, Derralynn Hughes, David G Warnock, Antonio Pisani, François Eyskens, Patrick Deegan, Ulla Feldt-Rasmussen, Ozlem Goker-Alpan, Ankit Mehta, Giovanni Piotti, Vito Fichera, Meng Wang, Raul Chertkoff, Stephen Waldek, William R Wilcox, John A Bernat
{"title":"Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.","authors":"Myrl Holida, Aleš Linhart, Nicola Longo, Eric Wallace, Camilla Tøndel, Derralynn Hughes, David G Warnock, Antonio Pisani, François Eyskens, Patrick Deegan, Ulla Feldt-Rasmussen, Ozlem Goker-Alpan, Ankit Mehta, Giovanni Piotti, Vito Fichera, Meng Wang, Raul Chertkoff, Stephen Waldek, William R Wilcox, John A Bernat","doi":"10.1186/s13023-026-04303-8","DOIUrl":"https://doi.org/10.1186/s13023-026-04303-8","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-19DOI: 10.1186/s13023-025-04094-4
Chunling Li, Wei Huang, Zhongzhi Gan, Yin Ling, Liyan Qiu, Yuanling Xiao, Fu Xiong, Fang Yang
{"title":"Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.","authors":"Chunling Li, Wei Huang, Zhongzhi Gan, Yin Ling, Liyan Qiu, Yuanling Xiao, Fu Xiong, Fang Yang","doi":"10.1186/s13023-025-04094-4","DOIUrl":"10.1186/s13023-025-04094-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13001374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-19DOI: 10.1186/s13023-026-04299-1
Renata Linertová, Márta Péntek, Benjamín Rodríguez-Díaz, Christine Bodemer, Vinzenz Hübl, May El Hachem, Gudrun Salamon, Verónica Alonso-Ferreira, Georgi Stefanov, Ritu Jain, Yolanda Ramallo-Fariña, Lidia García-Pérez
Background: Epidermolysis bullosa (EB) is a rare genetic disorder that causes extreme skin fragility, chronic pain, and functional impairment, with major psychosocial and economic consequences. Health-related quality of life (HRQoL) data is critical to capture the full burden of EB. Health utilities derived from preference-based generic instruments such as the EQ-5D-5L provide standardized health status utility values that enable cross-disease comparisons and provide input data for cost-utility analyses to inform resource allocation. There is a notable lack of multinational, up-to-date utility data for EB. This cross-sectional study aimed to assess HRQoL in adults with EB across seven European countries (Austria, Bulgaria, Germany, Hungary, Italy, France, and Spain) using the EQ-5D-5L.
Results: A total of 328 adults with EB participated in the survey, 61% were female, 37% were between 18 and 30 years old and 46% had dystrophic EB. Based on self-reported symptoms, 58% were classified as severe EB. Pain/discomfort was the most affected EQ-5D-5L dimension (92% reporting problems; 27% severe or extreme). The mean EQ-5D value (health utility) was 0.63 (SD 0.32), ranging from 0.57 in Spain to 0.71 in Bulgaria. Patients with severe EB reported significantly lower utilities than non-severe cases (0.52 vs. 0.78, p < 0.001). Mean EQ VAS score was 60 (SD 23.2). Compared to general population norms, EB patients in all countries had markedly lower HRQoL (p < 0.005), with large effect sizes for the EQ-5D value (Cohen's d ≥ 0.8). Symptomatic burden and functional deterioration were the primary drivers of HRQoL impairments.
Conclusions: This multinational study provides the most extensive and current health utility data for adults with EB in Europe. Findings reveal the profound HRQoL impairment in EB, particularly in severe cases. These standardized utility values fill a major evidence gap, supporting their use in health economic evaluations, cross-disease comparisons, and policy development.
背景：大疱性表皮松解症（EB）是一种罕见的遗传性疾病，可导致皮肤极度脆弱、慢性疼痛和功能障碍，并具有严重的社会心理和经济后果。健康相关生活质量（HRQoL）数据对于捕捉EB的全部负担至关重要。来自基于偏好的通用工具（如EQ-5D-5L）的卫生实用工具提供了标准化的健康状态实用值，可以进行跨疾病比较，并为成本效用分析提供输入数据，从而为资源分配提供信息。值得注意的是，缺乏跨国公司最新的电子商务实用数据。本横断面研究旨在使用EQ-5D-5L评估七个欧洲国家（奥地利、保加利亚、德国、匈牙利、意大利、法国和西班牙）EB成人的HRQoL。结果：328名成人EB患者参与调查，其中61%为女性，37%为18 - 30岁，46%为营养不良型EB。根据自我报告的症状，58%被归类为严重EB。疼痛/不适是EQ-5D-5L维度中受影响最大的（92%报告有问题，27%报告严重或极端）。平均EQ-5D值（健康效用）为0.63 (SD 0.32)，范围从西班牙的0.57到保加利亚的0.71。重度EB患者报告的效用显著低于非重度患者（0.52 vs. 0.78, p）。结论：这项跨国研究为欧洲成人EB患者提供了最广泛和最新的健康效用数据。研究结果显示，EB患者的HRQoL严重受损，特别是在严重病例中。这些标准化的效用值填补了一个主要的证据空白，支持它们在卫生经济评估、跨疾病比较和政策制定中的使用。
{"title":"Health-related quality of life in adults with epidermolysis bullosa: a cross-sectional study in seven European countries using EQ-5D-5L.","authors":"Renata Linertová, Márta Péntek, Benjamín Rodríguez-Díaz, Christine Bodemer, Vinzenz Hübl, May El Hachem, Gudrun Salamon, Verónica Alonso-Ferreira, Georgi Stefanov, Ritu Jain, Yolanda Ramallo-Fariña, Lidia García-Pérez","doi":"10.1186/s13023-026-04299-1","DOIUrl":"https://doi.org/10.1186/s13023-026-04299-1","url":null,"abstract":"<p><strong>Background: </strong>Epidermolysis bullosa (EB) is a rare genetic disorder that causes extreme skin fragility, chronic pain, and functional impairment, with major psychosocial and economic consequences. Health-related quality of life (HRQoL) data is critical to capture the full burden of EB. Health utilities derived from preference-based generic instruments such as the EQ-5D-5L provide standardized health status utility values that enable cross-disease comparisons and provide input data for cost-utility analyses to inform resource allocation. There is a notable lack of multinational, up-to-date utility data for EB. This cross-sectional study aimed to assess HRQoL in adults with EB across seven European countries (Austria, Bulgaria, Germany, Hungary, Italy, France, and Spain) using the EQ-5D-5L.</p><p><strong>Results: </strong>A total of 328 adults with EB participated in the survey, 61% were female, 37% were between 18 and 30 years old and 46% had dystrophic EB. Based on self-reported symptoms, 58% were classified as severe EB. Pain/discomfort was the most affected EQ-5D-5L dimension (92% reporting problems; 27% severe or extreme). The mean EQ-5D value (health utility) was 0.63 (SD 0.32), ranging from 0.57 in Spain to 0.71 in Bulgaria. Patients with severe EB reported significantly lower utilities than non-severe cases (0.52 vs. 0.78, p < 0.001). Mean EQ VAS score was 60 (SD 23.2). Compared to general population norms, EB patients in all countries had markedly lower HRQoL (p < 0.005), with large effect sizes for the EQ-5D value (Cohen's d ≥ 0.8). Symptomatic burden and functional deterioration were the primary drivers of HRQoL impairments.</p><p><strong>Conclusions: </strong>This multinational study provides the most extensive and current health utility data for adults with EB in Europe. Findings reveal the profound HRQoL impairment in EB, particularly in severe cases. These standardized utility values fill a major evidence gap, supporting their use in health economic evaluations, cross-disease comparisons, and policy development.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147486610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-13DOI: 10.1186/s13023-026-04307-4
Junhao Jin, Hongling Su, Zunmin Wan, Yating Zhao, Hongfan Zhao, Aiping Tang, Ya Ma, Huan Liu, Tongtong Gao, Like Ma, Aqian Wang, Bo Li, Kaiyu Jiang, Fu Zhang, Yunhe Zhang, Mei Jiang, Chenxi Zhang, Min Zhang, Yunshan Cao
{"title":"Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.","authors":"Junhao Jin, Hongling Su, Zunmin Wan, Yating Zhao, Hongfan Zhao, Aiping Tang, Ya Ma, Huan Liu, Tongtong Gao, Like Ma, Aqian Wang, Bo Li, Kaiyu Jiang, Fu Zhang, Yunhe Zhang, Mei Jiang, Chenxi Zhang, Min Zhang, Yunshan Cao","doi":"10.1186/s13023-026-04307-4","DOIUrl":"https://doi.org/10.1186/s13023-026-04307-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147459319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号