Rare最新文献

{"title":"Author’s response to “Correspondence on First year result and insights from the Mexican Rare Disease Patient Registry”","authors":"Claudia Gonzaga-Jauregui","doi":"10.1016/j.rare.2025.100075","DOIUrl":"10.1016/j.rare.2025.100075","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100075"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143578428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023)","authors":"Oleg Kvlividze, Tinatin (Tika) Tkemaladze","doi":"10.1016/j.rare.2025.100062","DOIUrl":"10.1016/j.rare.2025.100062","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100062"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143161225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A qualitative needs assessment of external communication by rare disease associations.","authors":"J.A. Levine ,&nbsp;S. SiWan Zimmerman ,&nbsp;F. Delval ,&nbsp;L. Perkins Smith ,&nbsp;A. Kitchen ,&nbsp;E. Garrigues Tena","doi":"10.1016/j.rare.2025.100064","DOIUrl":"10.1016/j.rare.2025.100064","url":null,"abstract":"<div><h3>Background</h3><div>There is widespread acknowledgment amongst the rare disease community that effective communication strategies are lacking to explain diagnostic issues and therapeutic challenges to the public. The goal of this study was to objectively assess the communication needs of rare disease associations using validated techniques.</div></div><div><h3>Methods</h3><div>Sixty-minute structured interviews and objective analysis of transcribed responses were conducted and analyzed for 20 rare disease organizations.</div></div><div><h3>Results</h3><div>Associations uniformly agreed that effective communication was important to educate the public, advance advocacy and raise funds. However, there was no consensus as to how this should be achieved. Only seven of the 20 organizations had formal communication plans. Only few organizations had staff dedicated to external communication.</div></div><div><h3>Conclusions</h3><div>Strategic improvement in rare disease communication may increase the awareness of rare diseases and advance science. Communication challenges included staffing, funding, technological resources, training and expertise.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100064"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143387832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia","authors":"Jeannette Goh ,&nbsp;Jiin Ying Lim ,&nbsp;Annet Simons ,&nbsp;Lisa Ewans ,&nbsp;Sylvia Kam ,&nbsp;Jasmine Goh ,&nbsp;Jing Xian Teo ,&nbsp;Sock Hoai Chan ,&nbsp;Shermaine Chan ,&nbsp;Simon Ling ,&nbsp;Terrence Thomas ,&nbsp;Gavin Tan ,&nbsp;Weng Khong Lim ,&nbsp;Angeline Lai ,&nbsp;Saumya Shekhar Jamuar","doi":"10.1016/j.rare.2024.100054","DOIUrl":"10.1016/j.rare.2024.100054","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100054"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A precision public health approach to improving rare disease diagnosis and care for aboriginal people, the first 15 years","authors":"Megan Fiona Baxter ,&nbsp;Tala Mitchell ,&nbsp;Yarlalu Thomas ,&nbsp;Shamir Rind ,&nbsp;Jake Keeffe ,&nbsp;Danielle Headland ,&nbsp;Dylan Gration ,&nbsp;Gareth Baynam","doi":"10.1016/j.rare.2025.100091","DOIUrl":"10.1016/j.rare.2025.100091","url":null,"abstract":"<div><div>Rare diseases represent a significant and growing public healthcare challenge and are often the spotlight for innovation and progress. However the care of all individuals living with rare diseases is often inequitable. In Australia there are an estimated 50,000 Aboriginal people living with a rare disease, with access to appropriate services often inconsistent. This article aims to highlight the first 15 years of coordinated state-wide approaches to improving the diagnosis and care of Aboriginal people living with rare diseases in Western Australia (WA). As part of this we aim to highlight the numerous key moments and interventions that have been pivotal in shaping rare disease care for Aboriginal Western Australians. This includes key partnership to national and international initiatives that have been implemented. We also aim to outline areas of innovation and further work as we continue to strive to improve the care of Aboriginal people living with rare diseases.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100091"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143922935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proposal of an Integrated Patient Journey roadmap for the introduction of the first gene therapy for haemophilia B in Spain – The BHEMOGEN project","authors":"MT Álvarez-Román ,&nbsp;S Bonanad ,&nbsp;C Herrera ,&nbsp;MR López ,&nbsp;DA García-Diego ,&nbsp;S García ,&nbsp;JB Montoro ,&nbsp;JP Quintero ,&nbsp;JL Poveda ,&nbsp;A Gil ,&nbsp;I Gómez ,&nbsp;I Cortés","doi":"10.1016/j.rare.2025.100078","DOIUrl":"10.1016/j.rare.2025.100078","url":null,"abstract":"<div><h3>Background</h3><div>The approval of the first gene therapy for haemophilia B represents a disruptive innovation in its management. Its practical integration into the Spanish national healthcare system presents unique challenges and opportunities, requiring the development of a structured, coordinated and multidisciplinary patient journey roadmap to ensure high-quality patient care and outcomes measurement.</div></div><div><h3>Methods</h3><div>A multidisciplinary panel of 10 experts was established. The project involved a literature review, structured questionnaires, individual interviews, practical exercises and validation of results by focus group with nominal group methodology.</div></div><div><h3>Results</h3><div>No specific patient journey for haemophilia B or for gene therapy were identified in Spain. Associated changes required for current treatment of haemophilia B were identified and proposals made: 1) selection of candidates to receive gene therapy involves individualised assessment of eligibility criteria by a multidisciplinary committee including additional profiles; 2) providing adequate training on gene therapy to healthcare professionals is a must to ensure quality of care; 3) the generation of a specific informed consent document and processes involving hepatology and psychology are essential, with the patient association playing a crucial role; 4) centres without prior practical experience in gene therapy must adapt specific areas to ensure correct preparation and administration; 5) short- and long-term patient follow-up should incorporate continuous monitoring of the patient's liver health and inclusion in registries for evaluation of outcomes.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100078"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143760980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality of life and sociodemographic characterisation of Sri Lankan children with Trisomy 21: A case control study","authors":"Hasani Hewavitharana ,&nbsp;Ruwangi Dissanayake ,&nbsp;Supun Manathunga ,&nbsp;Shaman Rajindrajith","doi":"10.1016/j.rare.2025.100088","DOIUrl":"10.1016/j.rare.2025.100088","url":null,"abstract":"<div><h3>Background</h3><div>Trisomy 21 is the most common chromosomal abnormality and the most frequent genetic cause of developmental delay and intellectual disability (ID) in children. The evaluation of their quality of life (QoL) is important for care optimisation and stakeholder decision making.</div></div><div><h3>Method</h3><div>A case-control study was conducted in the Child Development Clinic for children with Trisomy 21, Lady Ridgeway Hospital for Children (LRH) by using a parent directed validated multi-dimensional QoL (PedsQL™4.0) and a sociodemographic questionnaire to assess the QoL in children with Trisomy 21 in comparison to age and sex-matched healthy controls. It was evaluated in four domains and the physical and psychosocial health summary scores were calculated. Differences in mean scores between cases and controls were assessed using two-sample t-tests. Multivariate linear regression models were used to analyze factors affecting the QoL.</div></div><div><h3>Results</h3><div>The study included 226 children, 113 in each group, with similar gender distributions (47 males; 42 %). The mean age of cases and controls was 8.19 years (SD 3.11) and 8.30 years (SD 3.01) respectively. The mean QoL scores were significantly lower in the cases than in the controls in all four domains (p &lt; 0.001). The highest mean score of cases (76.6/SD 13.8) was observed for Emotional Functioning followed by Physical Functioning (71.35/SD 14.89). The lowest mean score for cases, as well as the highest percentage difference for mean score compared to controls was observed for School Functioning (57.52/SD 11.79). The presence of extended family support was significantly associated with higher Physical Functioning score in cases but had no association with the Psychosocial summary score. Household income, parental education and nature of employment had no correlation with physical functioning and psychosocial summary score.</div></div><div><h3>Conclusions</h3><div>The QoL was significantly low in all domains in children with Trisomy 21 with the lowest outcome in school functioning. It highlights the need to develop interventional programs, wider social awareness, acceptability and support systems by the involved healthcare, educational and social services personnel, to uplift QoL in children with trisomy 21 who are now experiencing better health outcomes and life expectancy.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100088"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143869409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder","authors":"Marya S. Sabir ,&nbsp;Lynne Wolfe ,&nbsp;David R. Adams ,&nbsp;Carla Ciccone ,&nbsp;Forbes D. Porter ,&nbsp;William A. Gahl ,&nbsp;Marjan Huizing ,&nbsp;Frances M. Platt ,&nbsp;May Christine V. Malicdan","doi":"10.1016/j.rare.2025.100065","DOIUrl":"10.1016/j.rare.2025.100065","url":null,"abstract":"<div><div>Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in <em>SLC17A5</em>, encoding the lysosomal transmembrane sialic acid exporter, sialin. Defective sialin function leads to sialic acid accumulation in lysosomes, contributing to neurodegeneration. While glycosphingolipid (GSL) metabolism is altered in other lysosomal storage disorders, its role in FSASD remains poorly understood, especially due to the restricted availability of biospecimens. This study investigated GSL levels in FSASD plasma and cerebrospinal fluid (CSF) using two normal-phase high-performance liquid chromatography assays. In plasma, GM1a was significantly elevated, while GM2 was decreased, with no significant alterations in other GSL species. In CSF, total GSLs, GM1a, GM3, GD3, GD1a, and GD1b were significantly elevated compared to comparison samples. These results reveal dysregulated GSL metabolism and suggest the potential of gangliosides as biomarkers. Further research is warranted to elucidate the biological implications of these alterations and their contributions to FSASD pathogenesis.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100065"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The exercising patient with phenylketonuria: Considerations and research recommendations","authors":"Ben Green","doi":"10.1016/j.rare.2025.100080","DOIUrl":"10.1016/j.rare.2025.100080","url":null,"abstract":"<div><div>While exercise is widely recognised for its physical and psychological benefits, its integration into PKU management is underexplored. This manuscript reviews the interplay between exercise, metabolic control, and dietary management in PKU, addressing key considerations such as protein intake, energy availability, bone health, and nutritional timing. The manuscript highlights PKU challenges, including reliance on phenylalanine-free protein substitutes, altered energy metabolism, and psychosocial barriers. While speculative and yet to be explored, regular exercise, when supported by tailored dietary strategies, may mitigate risks such as poor bone health, obesity, and mental health challenges often associated with PKU. These knowledge gaps are important to close, and exploring topics such as substrate utilisation during exercise, effective recovery strategies, and the long-term impact of structured exercise on metabolic control and overall health. Practical recommendations include upskilling metabolic dietitians in sport and exercise nutrition, developing exercise-compatible protein substitutes, and integrating exercise guidance into PKU management plans. This manuscript calls for a multidisciplinary approach to improve support for exercising PKU patients, including dietitians, exercise physiologists (if accessible), performance nutritionists and metabolic specialists, especially in view of professional sport persons with PKU. It also identifies research priorities, such as understanding phenylalanine kinetics during exercise, optimising protein substitute formulations for recovery and learning the impact of novel treatments and nutrients and their potential role is supporting exercising patients. By addressing these gaps, healthcare practitioners, researchers, and industry stakeholders can better enable safe and effective exercise participation, enhancing the health and quality of life for individuals with PKU.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100080"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)","authors":"Thibaud Damy, E. Donal, Olivier Lairez, Jean-Christophe Eicher, Mounira Karoubi, J. Trochu, Jocelyn Inamo, Gilbert Habib, François Roubille, A. Hagège, Flore Morio, E. Cariou, Jérôme Adda, Vincent Algalarrondo, Agathe Coste, Mathilde Bartoli, Jérémie Rudant, Lara Salvi, B. Francou, A. Guiochon‐Mantel, David Adams, Jean-Christophe Antoine, Shahram Attarian, P. Cintas, Raul Juntas Morales, Emmeline Lagrange, Laurent Magy, M. Mallaret, Yann Péréon, Philippe Petiot, C. Cauquil, C. Labeyrie, Andoni Echaniz-Laguna, G. Solé, C. Tard, S. Oghina, Philippe Charron, Michel Slama","doi":"10.1016/j.rare.2024.100021","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100021","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"61 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139888967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}