Intractable & rare diseases research最新文献

{"title":"Prevalence and maternal-child clinical and socioeconomic factors associated with congenital anomalies in a Mexican hospital-based setting.","authors":"Víctor Michael Salinas-Torres, Rafael Ángel Salinas-Torres","doi":"10.5582/irdr.2026.01011","DOIUrl":"10.5582/irdr.2026.01011","url":null,"abstract":"<p><p>There is controversial evidence that some selected congenital anomalies (CA) are associated with sex, maternal age, urban-rural residence, or socioeconomic status among the Hispanic population. This study aimed to assess the prevalence and maternal-child clinical and socioeconomic factors across a wide range of CA in a hospital-based setting from northwest Mexico. From January to December 2023, a cross-sectional study for CA and live births at Durango General Hospital was performed. Hospital-based prevalence was calculated for all CA subtypes and grouped anatomical system defects. Associations with CA and subgroup analysis were conducted to assess newborn sex, maternal age, residence, and socioeconomic factors on CA prevalence, using Pearson's chi-squared test and Fisher's exact test. Probability of CA was estimated based on logistic regression analysis along with odds ratio (OR) and its 95% confidence interval. All tests were two-sided with <i>p</i> values < 0.05 considered statistically significant. A total of 6,784 newborns and 306 CA were assessed (hospital-based prevalence 4.5%). Males, maternal age < 20 and ≥ 35 years, urban residence, and lowest socioeconomic status were associated with CA (all OR > 1.0 and <i>p</i> < 0.05). Subgroup analysis indicated associations between males and cardiovascular and genitourinary defects; maternal age < 20 years and craniofacial and abdominal defects; maternal age ≥ 35 years and digestive and chromosomal abnormalities; mother's urban residence and craniofacial, cardiovascular, genitourinary, and abdominal defects; socioeconomic levels D-E and craniofacial and cardiovascular defects (all OR > 1.0 and <i>p</i> < 0.05). These findings reflect noticeable components associated with several CA and might be relevant for prevention and maternal-child health.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"194-199"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138092","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 \"China model\" for rare disease governance: Policy framework, local implementation, and pathways for optimization.","authors":"Xiumei Zhang, Jing Luan, Yan Mu, Keke Zhang, Zhiyan Han, Jinxiang Han","doi":"10.5582/irdr.2025.01060","DOIUrl":"10.5582/irdr.2025.01060","url":null,"abstract":"<p><p>Globally, the prevention and treatment of rare diseases is still constrained by limited diagnostic and therapeutic capacity, restricted drug accessibility, and disparities in medical security systems. In response, China has developed a distinct \"China Model\" of rare disease governance, characterized by national policy leadership and coordinated local implementation. This study systematically reviews policies issued between 2009 and 2026 and it analyzes five domains: <i>i</i>) prevention and screening, <i>ii</i>) list-based governance, <i>iii</i>) clinical diagnosis and treatment systems, <i>iv</i>) drug accessibility, and <i>v</i>) payment guarantees. Shandong Province is examined as a representative case. Findings show that the central government has established unified standards through two nationally endorsed rare disease lists covering 207 conditions, supported by clinical guidelines and a national collaborative network for diagnosis and treatment of those diseases. Regulatory incentives for drug review and approval have facilitated the inclusion of 126 treatments for patients with rare diseases in the National Basic Medical Insurance reimbursement list, forming an integrated policy framework spanning identification, diagnosis, treatment, and financial protection. At the provincial level, Shandong is aligned with national directives by integrating its case registration system with the national platform, enhancing quality control across its clinical network and developing a multilevel payment mechanism. The core of the \"China Model\" is the enhancement of clinical capacity through standardized systems and networked organizations, combined with multilevel risk-sharing mechanisms. However, governance challenges persist, including weak inter-organizational policy coordination, barriers to drug accessibility, fragmented coverage schemes, and an underdeveloped data governance infrastructure. Addressing these challenges requires enhanced end-to-end policy implementation and institution of effective local practices at the national level.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"120-128"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138057","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":"Policy lessons regarding medical security for rare diseases inChina: Insights from Zhejiang Province through the multiplestreams framework.","authors":"Miao Wang, Chunyu Rong, Pingyang Wang","doi":"10.5582/irdr.2026.01001","DOIUrl":"10.5582/irdr.2026.01001","url":null,"abstract":"<p><p>Rare diseases pose a persistent challenge to healthcare systems worldwide due to their low prevalence, high treatment costs, and rapid emergence of novel therapies. In China, while significant progress has been made through national rare disease lists and medical insurance negotiations, substantial medical security gaps remain at the subnational level. This Policy Forum examines the decade-long evolution of rare disease-specific medical security policies in Zhejiang Province (2015-2025) to draw broader lessons for designing sustainable and equitable coverage mechanisms under centralized insurance systems. Using the multiple streams framework (MSF) as an interpretive lens, this article puts forth three policy arguments. First, medical security for rare diseases cannot rely solely on basic medical insurance (BMI); instead, it requires institutional layering that combines insurance-based pooling, fiscal instruments, and social co-assistance. Second, in highly centralized governance contexts, policy entrepreneurship is predominantly state-embedded, with administrative agencies playing a decisive role in coupling problems, solutions, and political mandates. Third, policy innovation in relation to rare diseases is not a one-time event but an iterative process, in which each reform generates new problem definitions and policy windows. The Zhejiang experience demonstrates that under institutional constraints such as standardized benefit lists, local governments can achieve strategic innovation within the available institutional space by shifting their policy focus from reimbursing costs for \"drugs on the Nationally Reimbursed Drug List (NRDL)\" to targeted compensation for expenditures for drugs not on the NRDL. This pathway improves treatment affordability while maintaining fiscal sustainability, providing actionable insights for China and healthcare systems in other countries facing similar structural constraints.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"135-143"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138087","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":"Beyond malignancies: Clinical advancements of CAR T-cell in the treatment of autoimmune diseases.","authors":"Xing Fang, Ruili Wei, Wenli Zhu, Yongxian Hu, Hui Liang","doi":"10.5582/irdr.2025.01057","DOIUrl":"10.5582/irdr.2025.01057","url":null,"abstract":"<p><p>Chimeric antigen receptor (CAR) T-cell therapy targeting B cells has emerged as a breakthrough treatment for hematological malignancies and shows promising potential in autoimmune diseases. While selective targeting of B-cell activation and autoantibody production represents an innovative therapeutic approach in autoimmune conditions, clinical responses remain suboptimal in many patients due to incomplete B-cell depletion in tissues and limitations in identifying ideal target antigens. Over the past four years, autologous or allogeneic CAR T-cell therapy has demonstrated remarkable efficacy in autoimmune diseases, achieving rapid and sustained B-cell depletion alongside complete clinical and serological remission. This review examines the current landscape of B cell-targeting CAR T-cell therapy, its therapeutic applications in autoimmune disorders, ongoing translational research, and future developments.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"144-155"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138018","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 skin as a sentinel organ for neurodegeneration: An underrecognized target for dementia prevention.","authors":"Yue Han, Chu Zhou, Ping Wang, Kenji Karako, Peipei Song","doi":"10.5582/irdr.2026.01043","DOIUrl":"10.5582/irdr.2026.01043","url":null,"abstract":"<p><p>Dementia prevention increasingly requires attention to modifiable systemic inflammatory stressors. In older adults, bullous pemphigoid (BP), herpes zoster (HZ), psoriasis, atopic dermatitis (AD), rosacea, prurigo nodularis (PN), and chronic pruritus are not merely disorders limited to the skin; they may signal or amplify neuroimmune vulnerability. Observational studies link BP with dementia and Alzheimer's disease, HZ with incident dementia and vascular cognitive injury, and psoriasis, AD, rosacea, or PN with smaller but biologically plausible cognitive risks. The proposed skin-brain axis integrates cytokine spillover, endothelial activation, blood-brain barrier dysfunction, BP180/ BP230 autoantigen sharing, varicellazoster virus neurotropism and vasculopathy, barrier failure, dysbiosis, itching-induced fragmented sleep, and medication or frailty-related cognitive toxicity. Clinically, cognitive impairment also worsens skin surveillance, hygiene, topical adherence, and recognition of pain, itching, infection, or blistering. Although causality and dementia prevention remain unproven, the evidence justifies proactive dermatological care in older adults and greater cognitive vigilance in older patients with severe inflammatory or pruritic dermatoses. Recombinant zoster vaccination, prompt antiviral therapy, steroid-sparing BP strategies, modern anti-inflammatory treatment for AD, psoriasis, and PN, and systematic attention to sleep, itching, caregiver capacity, and the medication burden are practical, low-regret steps while prospective brain-relevant trials are developed. This translational framework highlights mechanisms clinicians can now interrupt and endpoints investigators can soon measure. We propose that the skin should be recognized as a sentinel organ for neurodegeneration and that dermatological disease represents a potentially modifiable contributor to cognitive decline.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"156-165"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138049","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":"From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem.","authors":"Rachel Yang","doi":"10.5582/irdr.2026.01019","DOIUrl":"10.5582/irdr.2026.01019","url":null,"abstract":"<p><p>International collaboration is indispensable in rare diseases, yet its depth and impact vary widely. In recent years, China has expanded its engagement in global rare-disease initiatives, but not all efforts translate into lasting progress. This Policy Forum examines China's evolving role through the lens of symbolic versus substantive collaboration. While symbolic efforts enhance visibility, substantive collaboration builds durable infrastructures-such as standardized terminologies, interoperable data systems and registries, and sustained clinical and research networks. Drawing on policy-relevant case examples, this article shows how patient-centered, infrastructure-building approaches can transform episodic engagement into systemic capacity. Looking ahead, the next phase of collaboration must focus on embedding global standards into health information systems, registries, and reimbursement frameworks. With its population scale, growing scientific capacity, and expanding global interaction, China is well positioned to evolve from a participant to a co-shaper of a truly global rare-disease ecosystem.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"129-134"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138075","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":"Erratum: Corrigendum.","authors":"","doi":"10.5582/irdr.2026.E1","DOIUrl":"https://doi.org/10.5582/irdr.2026.E1","url":null,"abstract":"<p><p>[This corrects the article on p. 248 in vol. 240.].</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"E1"},"PeriodicalIF":1.6,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13244577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148211290","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 neurologist's guide to VEXAS syndrome: Differentiating somatic autoinflammation from autoimmune mimics.","authors":"Nikolaos Mitsoudis, Ioannis Nikolakakis, Athanasia Apsemidou, Christos Bakirtzis, Nikolaos Grigoriadis","doi":"10.5582/irdr.2026.01013","DOIUrl":"10.5582/irdr.2026.01013","url":null,"abstract":"<p><p>This review characterizes VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) as a prototype of adult-onset autoinflammation that challenges traditional autoimmune paradigms. Driven by constitutive activation of innate myeloid cells <i>via</i> Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1) mutations, VEXAS affects the nervous system in approximately 6-10% of cases. We identify the peripheral nervous system as the primary target (70%), typically manifesting as refractory axonal polyneuropathy, while central involvement may present as neutrophilic meningoencephalitis. Crucially, we highlight the \"hematologic paradox\"-hyperinflammation co-occurring with macrocytic anemia rather than thrombocytosis-as the key biomarker distinguishing VEXAS from vasculitic mimics, necessitating early genetic sequencing for targeted clone suppression.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"166-172"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138035","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":"Understanding the disease burden and unmet needs of patients with primary immunodeficiency in China: A quantitative study.","authors":"Linguo Li, Yinru Chen, Zikai He, Qun Li, Rufang Huang","doi":"10.5582/irdr.2025.01074","DOIUrl":"10.5582/irdr.2025.01074","url":null,"abstract":"<p><p>To quantitatively describe the disease burden and living status of patients with primary immunodeficiency (PID) in China, a descriptive, nationwide cross-sectional survey was conducted in September 2024 <i>via</i> a patient organization, yielding 435 valid responses. Among respondents, 82% were male and 77% were pediatric; antibody deficiencies were the most common category (63%), with X-linked agammaglobulinemia (49%) being the most frequent self-reported subtype. The mean diagnostic delay was 3 years, with 45.2% waiting over 1 year and 78.6% experiencing prior misdiagnosis or missed diagnosis. Although 82% received immunoglobulin therapy, only 7% reported being relatively healthy without complications. Health-related quality of life (HRQoL) utility values, measured <i>via</i> EQ-5D instruments, were 0.87 for children and 0.84 for adults, appearing lower than reference population norms. Educational disruption affected 25.1% of pediatric patients, while 27% of adult patients were unemployed and 47.1% required frequent sick leave. Caregiving demands were extensive, with 53.4% of pediatric patients requiring dedicated care, resulting in 51.5% of their primary caregivers resigning from their jobs. In conclusion, PID imposes substantial medical, psychological, and socioeconomic burdens in China. These descriptive findings highlight an urgent need for earlier diagnosis, improved therapeutic access, and integrated societal support systems for education, employment, and caregiving.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 2","pages":"173-182"},"PeriodicalIF":2.1,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148138059","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":"Foods for special medical purposes for the dietary therapy of rare diseases: Current status and future prospects.","authors":"Ting Zhang, Yun Wang, Cuiping Shi, Ye Zi, Wei Cai, Jian Zhong","doi":"10.5582/irdr.2025.01075","DOIUrl":"10.5582/irdr.2025.01075","url":null,"abstract":"<p><p>Foods for special medical purposes (FSMPs) is a type of products that provides targeted nutritional support for specific diseases or physiological conditions. Compared with conventional dietary therapy, FSMPs are more targeted, safer, and applicable in clinic. When FSMPs are used to treat rare diseases, their core principle is to bypass or alleviate metabolic disorders. With the increasing recognition of clinical treatment effectiveness and the growing demand from patients, the types and market scale of commercial rare disease FSMPs continue to expand. However, there are currently no article summarized and analyzed the characteristics of diverse commercial products. Based on this, this review collected and collated the vast majority of commercial rare disease FSMPs in the global market, and summarized the characteristics of these products by categorizing them into protein substitutes, nutritional modules, ketogenic diets (KDs), and special low protein foods (SLPFs). Following the comprehensive analysis of the global commercial rare disease FSMPs landscape, this review shifted focus to China and provided suggestions from product diversity, technological innovation, and policy optimization. It aims to offer available suggestions and references for the healthy development of rare disease FSMPs in China.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"15 1","pages":"26-44"},"PeriodicalIF":2.1,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12932013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289664","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}