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A qualitative needs assessment of external communication by rare disease associations.

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100064

J.A. Levine , S. SiWan Zimmerman , F. Delval , L. Perkins Smith , A. Kitchen , E. Garrigues Tena

{"title":"A qualitative needs assessment of external communication by rare disease associations.","authors":"J.A. Levine , S. SiWan Zimmerman , F. Delval , L. Perkins Smith , A. Kitchen , 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}

引用次数: 0

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100065

Marya S. Sabir , Lynne Wolfe , David R. Adams , Carla Ciccone , Forbes D. Porter , William A. Gahl , Marjan Huizing , Frances M. Platt , May Christine V. Malicdan

{"title":"Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder","authors":"Marya S. Sabir , Lynne Wolfe , David R. Adams , Carla Ciccone , Forbes D. Porter , William A. Gahl , Marjan Huizing , Frances M. Platt , 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}

引用次数: 0

Proposal of an Integrated Patient Journey roadmap for the introduction of the first gene therapy for haemophilia B in Spain – The BHEMOGEN project

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100078

MT Álvarez-Román , S Bonanad , C Herrera , MR López , DA García-Diego , S García , JB Montoro , JP Quintero , JL Poveda , A Gil , I Gómez , I Cortés

{"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 , S Bonanad , C Herrera , MR López , DA García-Diego , S García , JB Montoro , JP Quintero , JL Poveda , A Gil , I Gómez , 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}

引用次数: 0

The exercising patient with phenylketonuria: Considerations and research recommendations

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100080

Ben Green

{"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}

引用次数: 0

Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) 法国的转甲状腺素淀粉样变性心肌病：横断面多中心研究（333 名患者）

Rare Pub Date : 2024-02-01 DOI: 10.1016/j.rare.2024.100021

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

引用次数: 0

Unmasking the invisible: Complex lymphatic anomaly uncovered by bilateral chylothorax 揭开隐形的面纱双侧乳糜胸揭示的复杂淋巴异常

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100047

H. Ikrou , A. Ibenyahia , N. Boutbagha , M. Hachmi , M. Makloul , F. Ammor , I. lefquih , M. Maidi , S. Wakrim , O. Halloumi , S. Abdala , H. Serhane

{"title":"Unmasking the invisible: Complex lymphatic anomaly uncovered by bilateral chylothorax","authors":"H. Ikrou , A. Ibenyahia , N. Boutbagha , M. Hachmi , M. Makloul , F. Ammor , I. lefquih , M. Maidi , S. Wakrim , O. Halloumi , S. Abdala , H. Serhane","doi":"10.1016/j.rare.2024.100047","DOIUrl":"10.1016/j.rare.2024.100047","url":null,"abstract":"<div><div>Complex lymphatic anomalies (CLA) are an extremely rare group of disorders resulting from embryogenic lymphatic malformations that are characterized by overlapping clinical, anatomic location, imaging features, and complications. Due to their low incidence, these conditions are often reported in case studies and small series Chylothorax, or the accumulation of chyle in the pleural space, is a rare condition typically resulting from thoracic duct rupture or interruption. In CLA, it is one of the most frequent complications that reveal this pathology. It may occur as a result of the involvement of the lymphatic vessels of the pleura or thoracic duct by adjacent osteolysis. Some of the diagnoses include Gorham Stout disease and generalized lymphatic anomaly, which can be differentiated mostly by analyzing the imaging patterns of bone lesions. Diagnosis is based on clinical, analytical, radiological, and histopathological findings. We are reporting a case of a young 22-year-old female that presented with acute bilateral chylothorax with secondary to CLA. The diagnosis was confirmed through radiological findings using the non contrast MR lymphography, that revealed the presence of lymphatic malformations that were responsable for lytic bone lesions, and a splenic cystic lesion that was also compatible with the diagnosis, that was later on confirmed by histopathological of the pleural tissu,. This report aims to increase awareness and improve diagnostic approach of CLA, emphasizing the role of comprehensive imaging.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100047"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142416946","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}

引用次数: 0

A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family SPTBN4 中的一个新型同卵框移变异导致一个近亲家庭出现轴突性神经病并伴有智力障碍

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100037

Rabab Ibrahim , Ghazala Zafar , Shafaq Ramzan , Hijab Zahra , Asmat Ali , Shahnaz Ibrahim , Mathias Toft , Zafar Iqbal , Ambrin Fatima

{"title":"A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family","authors":"Rabab Ibrahim , Ghazala Zafar , Shafaq Ramzan , Hijab Zahra , Asmat Ali , Shahnaz Ibrahim , Mathias Toft , Zafar Iqbal , Ambrin Fatima","doi":"10.1016/j.rare.2024.100037","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100037","url":null,"abstract":"<div><h3>Introduction</h3><p>Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive condition arising from variations in the <em>SPTBN4</em> gene. This gene codes for βIV-spectrin, a non-erythrocytic member of the β-spectrin family. Homozygous variants in <em>SPTBN4</em> disrupt the cytoskeletal machinery responsible for localization of ion channels and functioning of axonal domains, leading to neurological dysfunction.</p></div><div><h3>Case presentation</h3><p>Here, we report three siblings with a homozygous frameshift indel c.1799–1800delGC in the <em>SPTBN4</em>, all presenting with severe muscular hypotonia, dysphagia, absent or limited speech, delayed gross motor development, global developmental delay, and intellectual disability. This condition has been associated with numerous secondary features.</p></div><div><h3>Conclusion</h3><p>The phenotype reported in our family contributes to establishing the core symptoms associated with mutations in <em>SPTBN4</em>, with varying levels of developmental delay, intellectual disability, limited speech, and congenital hypotonia.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100037"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000206/pdfft?md5=4070b94c4c5a287e3117999f7349b86a&pid=1-s2.0-S2950008724000206-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141593402","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}

引用次数: 0

Mitchell-Riley Syndrome: A rare genetic disorder, case report 米切尔-瑞利综合征：罕见遗传性疾病，病例报告

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100042

Shria Sadhu, Nibal Albitar, Mai AlKhouly, Aqeel Farooque

{"title":"Mitchell-Riley Syndrome: A rare genetic disorder, case report","authors":"Shria Sadhu, Nibal Albitar, Mai AlKhouly, Aqeel Farooque","doi":"10.1016/j.rare.2024.100042","DOIUrl":"10.1016/j.rare.2024.100042","url":null,"abstract":"<div><p>Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the <em>RFX6 gene</em>. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/malrotation, pancreatic hypoplasia, biliary atresia, and gallbladder aplasia or hypoplasia, with or without cholestasis. Early identification will prompt the physician toward a genetic diagnosis, aggressive clinical management, and family counselling. We report a case of a male infant with neonatal diabetes and intestinal obstruction, with genetically confirmed RFX6 missense homozygous variant. Though our infant ultimately succumbed to gram positive <em>(Staphylococcus epidermidis)</em> septicaemia originating from an infected central venous catheter, multidisciplinary and intensive disease management overall improves the clinical outcome in patients with Mitchell-Riley Syndrome. This includes tailored parenteral/oral nutrition and the use of advanced diabetes technologies. This rare syndrome is usually fatal, with death within the first year of life in the majority of reported cases. Clinicians should consider the possibility of this rarely reported syndrome in the diagnosis of a newborn that presents with hyperglycaemia along with intestinal atresia and/or progressive cholestasis. A better understanding of RFX6 function among both intestine and pancreas cells is essential for the identification of using new drugs that could modulate the enteroendocrine system.</p></div><div><h3>Level of clinical evidence</h3><p>4</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100042"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000255/pdfft?md5=63dee1ee5d8ba096605a1da65596656d&pid=1-s2.0-S2950008724000255-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142083967","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}

引用次数: 0

FDA approves leniolisib (Joenja) as the first treatment for APDS: A breaththrough in the field of immunology 美国 FDA 批准来尼利西布（Joenja）作为 APDS 的首款治疗药物：免疫学领域的重大突破

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100028

Muhammad Talha , Mohammad Haris Ali

引用次数: 0

Economics, externalities and rare disease 经济学、外差因素与罕见病

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100036

Carlisle Ford Runge , James Campbell , Carlisle P. Runge , Reena V. Kartha

引用次数: 0