Therapeutic advances in rare disease最新文献

{"title":"Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study.","authors":"Perry B Shieh, Wendy Hughes, Marie Wood, Alan H Beggs, Michael W Lawlor, Julie Coats, Fatbardha Varfaj, Robert J Graham, Nancy L Kuntz, James J Dowling, Wolfgang Müller-Felber, Carsten G Bönnemann, Ana Buj Bello, Laurent Servais, Vicky MacBean, Francesco Muntoni, A Reghan Foley, Astrid Blaschek, Emma S James, Andreea Seferian, Lindsay N Alfano, Tina Duong, Mojtaba Noursalehi, Weston Miller, Jun Lee, Suyash Prasad, Salvador Rico","doi":"10.1177/26330040251362885","DOIUrl":"https://doi.org/10.1177/26330040251362885","url":null,"abstract":"<p><p>What is this summary about? This summary describes the results of a research study (clinical trial) called ASPIRO that was published in the <i>Lancet Neurology</i> in 2023. This study looked at an investigational gene therapy called <b>resamirigene bilparvovec</b> (also known as AT132) as a possible treatment for children with a disease called X-linked <b>myotubular myopathy</b> (abbreviated as XLMTM).</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251362885"},"PeriodicalIF":0.0,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12449642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115427","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":"Systemic inflammation in Fabry disease: a longitudinal immuno-genetic analysis based on variant stratification.","authors":"Haylen Marín Gómez, Miguel López-Garrido","doi":"10.1177/26330040251375498","DOIUrl":"10.1177/26330040251375498","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease is a multisystemic lysosomal disorder caused by mutations in the GLA gene. Although traditionally attributed to lysosomal accumulation of globotriaosylceramide (Gb3), recent evidence suggests a key role of sustained systemic inflammation in its pathogenesis, even in early stages.</p><p><strong>Objectives: </strong>To characterize inflammatory and immunological profiles in a genetically stratified familial cohort with Fabry disease and explore genotype-dependent immune activation patterns.</p><p><strong>Design: </strong>Retrospective, longitudinal study of 11 patients from three interconnected families carrying distinct pathogenic GLA variants.</p><p><strong>Methods: </strong>We analyzed longitudinal data on inflammatory biomarkers (C-reactive protein, ferritin, fibrinogen) and immunological markers (IgG, IgM, IgE, complement C3/C4, anti-enzyme replacement therapy antibodies), alongside clinical variables. Multivariate correlation and unsupervised clustering techniques explored immunophenotypic patterns.</p><p><strong>Results: </strong>All patients exhibited chronic inflammation regardless of genotype. The c.53dup variant showed prominent humoral activation, IVS4+1G>A had complement-mediated activation with a cardiorenal phenotype, and c.845C>T showed mild persistent inflammation. Correlations included CRP and IgG, and complement factors with fibrinogen in the splicing variant group.</p><p><strong>Conclusion: </strong>Inflammation in Fabry disease is not merely a consequence of substrate accumulation but an active and early driver of disease. Preliminary inflammatory phenotypes based on immune mechanisms may guide future personalized therapeutic strategies.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251375498"},"PeriodicalIF":0.0,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12426401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145066862","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":"Addressing rare diseases and access to surgical care in Brazil: a call to action.","authors":"Ayla Gerk, Letícia Nunes Campos, Luiza Telles, Sarah Lopes Salomão, Ana Woo Sook Kim, Beatriz Laus Pereira Lima, Sofia Wagemaker Viana, Melissa Zattoni Antonelli, Michelle Brandão, Igor Cunha, Natalia Jereissati, Cristiano Tonello, John G Meara, Nivaldo Alonso","doi":"10.1177/26330040251369887","DOIUrl":"10.1177/26330040251369887","url":null,"abstract":"","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251369887"},"PeriodicalIF":0.0,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12397601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144981978","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":"Updated demographics categories to capture the true diversity of an international registry of rare disease patients.","authors":"Nicole Kressin, Michael E Shy, Tara Jones, Nidia Villalpando, Gita Ramdharry","doi":"10.1177/26330040251359676","DOIUrl":"10.1177/26330040251359676","url":null,"abstract":"<p><strong>Background: </strong>NIH requires NIH-funded studies to use historical race and ethnicity categories-originally put forth by the Office of Management and Budget in 1997-for demographics collection. These historical categories were only designed for use within the United States (US). We speculated on the adequacy of these categories in capturing the true diversity of participants enrolled in the Inherited Neuropathy Consortium (INC), and their applicability for an international, broader rare disease population.</p><p><strong>Objectives: </strong>To determine the feasibility and outcomes of using updated categories for rare disease patients that can be collapsed into the required historical categories.</p><p><strong>Design: </strong>This was achieved by expanding on existing government categories from countries with INC sites to create categories that reached 100% consensus of the research team. Quantitative cross-sectional analysis was performed in two cohorts.</p><p><strong>Methods: </strong>Common government census categories among the US, the United Kingdom, Italy, and Australia were used to generate updated demographic categories capturing racial, ethnic, sex, and gender identities. We piloted the updated categories at three INC sites with participants who were participating in the INC. We made a minor update and sent the survey to anyone who had joined the Rare Disease Clinical Research Network's contact registry.</p><p><strong>Results: </strong>Both the pilot study and the contact registry saw an increase in diversity with the updated categories. The sex breakdown of the survey respondents was similar to that of the contact registry as a whole, but several participants were able to identify as nonbinary with the updated categories.</p><p><strong>Discussion: </strong>The updated categories allow researchers to provide a more inclusive race and ethnicity identification experience to participants. This may have implications for understanding differences in study populations that may translate to treatment response and has an overall aim to increase enrollment and adherence to observational research.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251359676"},"PeriodicalIF":0.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12317269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144777213","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":"Sparsentan in IgA nephropathy: a plain language summary of publication for the PROTECT study.","authors":"Brad H Rovin, Radko Komers, Chris Scroggins, Jonathan Barratt","doi":"10.1177/26330040251355613","DOIUrl":"https://doi.org/10.1177/26330040251355613","url":null,"abstract":"<p><p>What is this summary about? <b>Sparsentan</b> (FILSPARI^®) is a once-daily pill for people with <b>Immunoglobulin</b> A (IgA) <b>nephropathy</b> who are at high risk for worsening kidney disease. Early results from a research study (clinical trial) called PROTECT showed that after 9 months of treatment, <b>sparsentan</b> lowered <b>proteinuria</b> more than <b>irbesartan</b>, a blood pressure medication commonly used to treat IgA <b>nephropathy</b>. These results contributed to <b>sparsentan</b> receiving approval in the United States, the European Union, Switzerland, and the United Kingdom in 2024. This is a plain language summary of publication of an original article published in <i>The Lancet</i> (a medical journal) in November 2023, which reported further results from the PROTECT study. The original article reported on how well <b>sparsentan</b> worked to lower <b>proteinuria</b> and slow the worsening of kidney function (measured by estimated glomerular filtration rate (eGFR)) in people with IgA <b>nephropathy</b> compared with the highest possible dose of <b>irbesartan</b> over an approximately 2-year treatment period. The article also described the side effects that people enrolled in this study had with either <b>sparsentan</b> or <b>irbesartan</b>.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251355613"},"PeriodicalIF":0.0,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683751","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":"Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.","authors":"Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Maria Niarchou, Megan Clarke, Prabhu Shankar, Suma Shankar, Julie S Cohen, Kendell German, Seth Berger, Angela Sellitto, Inez Y Oh, Rashi Raizada, Piotr Sliz, Selvin Soby, Mihailo Kaplarevic, Dan Doherty, Andrea Gropman, Constance Smith-Hicks, Jeffrey L Neul, Virginia Lanzotti, Benjamin Darbro, Qiang Chang, Mustafa Sahin, Maya Chopra","doi":"10.1177/26330040251356521","DOIUrl":"10.1177/26330040251356521","url":null,"abstract":"<p><strong>Background: </strong>The absence of standardized approaches for handling genetic test results in electronic health records (EHRs), combined with a lack of diagnostic codes for most rare disorders, hinders accurate and timely identification of patients with rare genetic variants. This impedes access to research opportunities and genomic-driven care. To reduce the diagnostic odyssey, identify research-eligible subjects, and ultimately enhance patient care, it is critical to optimize approaches to retrieve genetic results.</p><p><strong>Objectives: </strong>To characterize resource requirements, yield, and biases among methods for identifying and retrieving genetic test results across 11 Intellectual and Developmental Disability Research Centers (IDDRC).</p><p><strong>Design: </strong>A survey was used to collect details from the authors on approaches to identify EHRs from patients who had genetic testing and variants of interest were reported; surveys were completed in 2022.</p><p><strong>Methods: </strong>Strengths and limitations in approaches to identify and retrieve genetic test results conducted from the implementation of EHR systems were evaluated. A standard template was used to collect genetic testing storage formats, methods to identify patients with rare disease variants, estimates of time/cost, nature of accessed data, method-specific bias in types of American College of Medical Genetics and Genomics classified variants identified. When possible, precision when performing gene name searches in the EHR was calculated.</p><p><strong>Results: </strong>Four approaches were used: (1) manual searches, reviews, and extractions, (2) natural language processing software-aided manual reviews and extractions, (3) custom databases via testing lab collaborations, and (4) testing EHR vendor-designed genomics modules. The fully manual approach required minimal infrastructure and allowed access to clinical notes but missed variants of unknown clinical significance. Precision for gene name matches based on searches of 59 genes was 0.16. Natural language processing software minimized effort but required considerable informatics support. Custom databases and EHR vendor modules necessitated substantial computational support; however, genetic testing results retrieval was efficient.</p><p><strong>Conclusion: </strong>Leveraging the IDDRC network, we found that methods to store, search and extract genetic testing results vary widely, especially regarding older test results, and have distinct benefits and limitations. Limitations are best addressed through practice guidelines that standardize storage and retrieval of genetic test results to facilitate efficient identification of research eligible subjects and genomic-informed patient care.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251356521"},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628022","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":"Enhancing and leveraging principal investigator and patient advocacy group collaboration in rare disease clinical research-meeting report from the rare Diseases Clinical Research Network.","authors":"Kristen Wheeden, Sheridan Meyers, Kristin Anthony, Mirna Chehade, Rogerwene C Gifford, Eileen C King, Michael Seid","doi":"10.1177/26330040251357318","DOIUrl":"10.1177/26330040251357318","url":null,"abstract":"<p><p>The Rare Diseases Clinical Research Network (RDCRN) works toward faster diagnosis and better treatment for people living with rare diseases, specifically by advancing clinical trial readiness. Inclusion of patient advocacy groups (PAGs) is mandated for each RDCRN consortia; principal investigator (PI)-PAG collaboration is expected to accelerate clinical trial readiness. Real-world examples of PI-PAG collaboration in rare disease clinical research (RDCR) are often not documented nor shared. We report on the Spring 2023 RDCRN meeting, which was dedicated to (a) capturing examples of ways that PAGs and PIs in the RDCRN collaborate, and (b) describing challenges and potential best practices for PAG-PI collaboration. PI and PAG attendees included 50 investigators and staff from 19 consortia and 41 PAG members from 21 consortia. Examples of collaboration in Study Design, Planning and Execution, Funding, and Stakeholder Engagement were captured, as were best practices and challenges to PI-PAG collaboration. Strengthening PI-PAG collaboration can accelerate rare disease research. Documenting real-world examples, and barriers and facilitators of collaboration, from across the RDCRN, supports existing frameworks for accelerating clinical trial readiness.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251357318"},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628021","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 roadmap to a sustainable end-to-end individualized therapy pathway.","authors":"Anneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, Alison Bateman-House, Holm Graessner, Gareth Baynam, Erika F Augustine, Adam Jaffe, Anna M G Pasmooij, Oxana Iliach, Richard Horgan, James Davies, Shruti Mitkus, Larissa Lapteva, Matthis Synofzik, Timothy W Yu, Daniel O'Connor, Annemieke Aartsma-Rus","doi":"10.1177/26330040251339204","DOIUrl":"10.1177/26330040251339204","url":null,"abstract":"<p><p>The field of individualized, or N-of-1, therapy development is growing and increasingly gaining attention as a novel option for people with serious diseases, caused by unique genetic variants for whom approved therapies are not available. The N-of-1 taskforce of the International Rare Disease Research Consortium previously outlined a roadmap of aspects involved in N-of-1 therapy development and implementation. Here, this follow-up paper looks forward and reflects on how to address existing gaps to advance the current state of individualized interventions toward an integrated and sustainable treatment development model. It discusses what needs to be established for N-of-1 therapies to be developed and utilized at a larger scale, which involves features like sustainability; safety; efficacy; regulatory aspects; dedicated registries and data sharing; tools; long-term treatment monitoring; partnering with patient advocates; and reimbursement models. It closes with recommendations to shape the future of individualized therapies, focusing on ethical implications, education, creation of tools, incentives for data sharing, and innovative payment models.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251339204"},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12117225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175579","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":"Access to drugs for rare diseases (DRD) in Canada: a comprehensive review of the provincial DRD-specific programs.","authors":"Nahya Awada","doi":"10.1177/26330040251335660","DOIUrl":"https://doi.org/10.1177/26330040251335660","url":null,"abstract":"<p><p>Access to drugs for rare diseases (DRDs) in Canada depends largely on the province of living and the specific disease. The federal government and each of the ten provincial governments have their own drug review processes to determine DRD coverage, resulting in a fragmented system. This fragmentation leads to disparities in coverage, delays in treatment access, and exacerbates the challenges faced by patients with rare diseases (RDs) seeking lifesaving treatments. Canada lags behind many developed countries in adopting a national strategy for DRDs. In 2019, the Canadian government announced a plan to develop such a strategy to improve access, affordability, and consistency. A plan was launched in March 2023, though details were sparse. Although a pilot strategy involving two DRDs began in July 2024 through a bilateral agreement between the federal government and British Columbia, there remains an opportunity for Canada to learn from both domestic and international approaches. By examining these strategies, Canada is well-positioned to develop a robust, evidence-based national policy. Employing a qualitative document review approach, this study examined and compared the specific programs that target DRDs, which have been implemented in five provinces-Ontario (ON), Alberta (AB), New Brunswick (NB), British Columbia (BC), and Saskatchewan (SK)-to facilitate access to DRDs. The study, conducted between February 2019 and April 2022, reviewed policy documents related to these programs (referred to as DRD-SPs), as these programs have not been formally evaluated. The review revealed that AB and NB have active DRD-SPs, while ON's DRD-SP framework has been terminated. Despite reliable sources indicating otherwise, SK does not have a DRD-SP. The status of BC's DRD-SP, if one exists, remained unclear. The investigation into DRD-SPs demonstrated the creation of an uncoordinated, inefficient, patchwork of programs that often neither covered all DRDs, nor provided clear guidelines for accessing them. These policies lacked defined objectives and performance measures for periodic review. A unified, evidence-based national DRD policy is needed to ensure consistent and timely access, incorporating insights from both domestic and international approaches.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251335660"},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053554","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":"Navigating gynaecological challenges in Gaucher's disease: insights from five European countries.","authors":"Ljubas Dominik, Krstulović Opara Anđela, Wagner Jasenka, Duraković Nadira","doi":"10.1177/26330040251335665","DOIUrl":"https://doi.org/10.1177/26330040251335665","url":null,"abstract":"<p><strong>Background: </strong>Gaucher's disease (GD), a rare lysosomal storage disorder, primarily affects haematopoietic tissue. Emerging evidence suggests that GD also has an impact on gynaecological well-being, with documented pregnancy-related complications. However, substantial evidence is still lacking, indicating the need for better surveillance of GD-associated gynaecological complications.</p><p><strong>Objectives: </strong>To assess the frequency of gynaecological ailments, pregnancies and pregnancy-related complications and outcomes in women diagnosed with GD in Central and Southeastern Europe.</p><p><strong>Design: </strong>An online questionnaire was developed to gather data on gynaecological and reproductive health among female patients aged 18 years or older from five countries (Croatia, Slovenia, Serbia, Northern Macedonia, Bosnia and Herzegovina). The questionnaire was translated to native language of participating countries and distributed by the Croatian Gaucher Association. The study was conducted from December 2021 to March 2022.</p><p><strong>Methods: </strong>The variables assessed were treatment type, age at diagnosis, reproductive history, frequency of haematological disorders, infertility issues and pregnancy outcomes, as well as comparison of these variables between treated and untreated patients. Descriptive statistics were employed to calculate proportions, and mean values were computed for continuous variables. Fisher's exact test was used to compare categorical variables.</p><p><strong>Results: </strong>The study involved 26 participants. At the time of the study, four of the participants were undergoing substrate reduction therapy (SRT), and the remainder were receiving enzyme replacement therapy (ERT). Patients who received treatment during pregnancy reported a higher frequency of pregnancy-associated bleeding (71.3% vs 22.2%, <i>p</i> = 0.030). In total, there were 25 pregnancies and 20 births reported, while 11 (42.3%) respondents did not have children. All women conceived naturally, yet three reported difficulties with conception. Women who reported bleeding during pregnancy were more likely to experience issues with conception (<i>p</i> = 0.036) and bleeding during childbirth (<i>p</i> = 0.018). However, no significant difference was observed in relation to bleeding prior to pregnancy (<i>p</i> = 0.529).</p><p><strong>Conclusion: </strong>GD does not hinder pregnancy or motherhood, nor does it affect fertility, although it does require proper medical oversight and care. ERT alone may not be sufficient to prevent bleeding events, and detailed studies concerning coagulation might be necessary in pregnant women with GD.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"6 ","pages":"26330040251335665"},"PeriodicalIF":0.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033257","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}