Journal of neuromuscular diseases最新文献

{"title":"Recurrent nonsense p.Trp3416* variant in the <i>DMD</i> gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.","authors":"Eliane Chouery, Cybel Mehawej, Serena Youssef, Yasmina Sfeir, Sandra Corbani, Rima Korban, France Leturcq, J Andoni Urtizberea, Andre Megarbane","doi":"10.1177/22143602251369639","DOIUrl":"10.1177/22143602251369639","url":null,"abstract":"<p><strong>Background: </strong>Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by pathogenic variants in the <i>DMD</i> gene, leading to dystrophin deficiency and progressive muscle degeneration. Thousands of variants with diverse types have been reported in <i>DMD</i>, contributing to a broad clinical spectrum. While typically associated with severe phenotypes, pathogenic DMD variants may also cause Becker muscular dystrophy (BMD), a milder form with later-onset muscle weakness, or isolated dilated cardiomyopathy with minimal skeletal muscle involvement. Rarely, asymptomatic individuals carry putative pathogenic variants, challenging established genotype-phenotype correlations.</p><p><strong>Methods: </strong>This study includes five unrelated Lebanese families who presented for genetic counseling or pre-marital screening and subsequently underwent genetic testing.</p><p><strong>Results: </strong>Exome sequencing revealed a predicted protein-truncating variant in exon 71 of <i>DMD</i> p.(Trp3416*) in multiple individuals, including three hemizygous healthy males aged 35, 65 and 67. Despite being classified as pathogenic, the variant's presence in asymptomatic males raises questions about its actual pathogenicity. In silico tools (e.g., Franklin, Varsome, CADD score: 52.0) predicted a strong deleterious effect. The variant is extremely rare in population databases and has conflicting interpretations in ClinVar, previously associated with DMD, BMD, and cardiomyopathy. Although other truncating variants in exon 71 are known to cause DMD, the identification of p.(Trp3416*) in healthy individuals with normal neuromuscular and cardiac function suggests the possibility of alternative splicing, modifier genes, or compensatory mechanisms mitigating the effect of dystrophin loss.</p><p><strong>Conclusion: </strong>This study underscores the importance of functional validation and long-term clinical monitoring to refine variant classification and guide accurate genetic counseling.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251369639"},"PeriodicalIF":3.4,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144883052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE network.","authors":"Sibylle Vogt, Cornelia Voigt-Müller, Heidi Rochau-Trumpp, Eva Malm, Doris Roland-Schäfer, Gerda Roetmann, Judith van Vugt, Sabine Stein, Janbernd Kirschner, Astrid Pechmann","doi":"10.1177/22143602251359801","DOIUrl":"10.1177/22143602251359801","url":null,"abstract":"<p><strong>Background and objectives: </strong>Disease-modifying treatments (DMT) have dramatically changed phenotypes in patients with spinal muscular atrophy (SMA). Because publications regarding standards of care were published before DMTs emerged, detailed recommendations and guidelines for physiotherapeutic management are still lacking. The objective of this study was to map the physiotherapeutic management of patients with SMA within the SMArtCARE network, a disease-specific registry for patients with 5q-SMA with 83 participating centers in Germany, Switzerland, and Austria.</p><p><strong>Methods: </strong>An online survey using a modified Delphi approach was conducted among physiotherapists with two questionnaire rounds between June 2022 and June 2023. Seven physiotherapeutic experts developed and revised the questionnaires focusing on the main topics of stretching, positioning, mobility and exercise, and chest physiotherapy. The second questionnaire was based on eight different case studies.</p><p><strong>Results: </strong>The second questionnaire was sent to 148 participants with a response rate of 28%. Most of the physiotherapists were well experienced in treating SMA patients. There was a strong consensus that home-based stretching should be used in pediatric patients with contractures regardless of their motor function. Muscle strengthening training was considered to be essential for all sitters and for walkers with moderate motor function restriction by a strong consensus. For all patients with respiratory involvement there was a consensus for prophylactic respiratory therapy.</p><p><strong>Conclusion: </strong>Our results describe the current physiotherapeutic management and recommendations within the SMArtCARE network. These findings highlight the need for an individualized approach, and the necessity of developing and adjusting existing guidelines.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251359801"},"PeriodicalIF":3.4,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144883051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between exon-skipping therapy with eteplirsen and cardiac outcomes in Duchenne muscular dystrophy.","authors":"Joel Iff, Isabelle Desguerre, Yunjuan Liu, Francois Sarkozy, Edward Tuttle, Francesco Muntoni, Craig M McDonald, Marie-Christine Nougues, Helge Amthor, Yi Zhong, Karim Wahbi","doi":"10.1177/22143602251366721","DOIUrl":"10.1177/22143602251366721","url":null,"abstract":"<p><p>BackgroundDuchenne muscular dystrophy (DMD) leads to dilated cardiomyopathy and heart failure during teenage years or young adulthood. Eteplirsen promotes dystrophin production through skipping of exon 51 of the <i>DMD</i> gene.ObjectiveThis analysis compared LVEF decline between eteplirsen-treated and control patients with exon 51 skip-amenable DMD.MethodsEteplirsen-treated patients from clinical trials were matched with control patients from natural history studies in a propensity score analysis. Risk of reaching LVEF thresholds (50%, 55%, and 60%) was evaluated using Cox proportional hazard models. Annual rate of LVEF decline was characterised using linear mixed effects models.ResultsAmong 141 eteplirsen-treated and 103 control patients available for matching, the analysis included 122 eteplirsen-treated patients matched with 122 control patients (64 unique control patients). No eteplirsen-treated and 27 controls (22.1%) reached LVEF <50%; eteplirsen-treated patients had a lower risk of reaching <55% and <60% thresholds versus controls (hazard ratio = 0.22; 95% CI = 0.07-0.66; <i>P</i> < 0.01 and hazard ratio = 0.40; 95% CI = 0.22-0.76; <i>P</i> < 0.01, respectively). Annual rate of LVEF decline for eteplirsen-treated and controls was -0.66% (95% CI = -0.96 to -0.36, <i>P</i> < 0.01) and -1.38% (95% CI = -1.60 to -1.16; <i>P</i> < 0.01), respectively. Results were consistent with a sensitivity analysis matching each eteplirsen-treated patient once with a unique control patient and with several tests for potential bias.ConclusionsIn this retrospective study, eteplirsen-treated patients were observed to have a significantly lower risk of reaching LVEF thresholds indicative of cardiac function decline and attenuation of LVEF decline compared with matched controls.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251366721"},"PeriodicalIF":3.4,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144883029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"'FlexYonio'; a reliable instrument to support monitoring the length of the long finger flexors in Duchenne muscular dystrophy (DMD).","authors":"Saskia Ls Houwen-van Opstal, Maaike Pelsma, Yolanda Mem van den Elzen, Laura Jb Merkenhof, Tamara P Popping-De Vries, Jan T Groothuis, Menno van der Holst, Edith Hc Cup","doi":"10.1177/22143602251362027","DOIUrl":"https://doi.org/10.1177/22143602251362027","url":null,"abstract":"<p><p>BackgroundShortening of the long finger flexors (FDP) results in extension limitation of both wrist and fingers and can hinder important activities of the upper extremities in Duchenne muscular dystrophy (DMD). Early detection of FDP shortening is important for timely interventions, but reliable measurement of FDP length is difficult.AimTo develop a new instrument to monitor FDP shortening more easily and precisely and to determine its intra -and interrater reliability.Materials and methodsThe new instrument, called the 'FlexYonio', was clinically developed according to biomechanical standards to be able to monitor FDP length, by measuring range of motion of wrist extension with extended fingers. A prospective reliability study was conducted during annual outpatient visits of people with DMD at the neuromuscular center of the Radboudumc. Repeated measures were conducted and two raters assessed the FDP length with the new instrument using a standardized measurement protocol. Reliability was measured using intra class correlation coefficient (ICC) calculation.ResultsThe 'FlexYonio' was easy to use and became part of the standard daily clinical care in DMD in the Radboudumc. For reliability, 86 arm/hands were assessed; the intra- and interrater reliability were excellent with ICC > 0.99. The within-rater limits of agreement were -6 to 8 degrees and the between-raters -11 to 13 degrees.ConclusionThe 'FlexYonio', in combination with the standardized measurement protocol, is a promising, easy to use, and reliable tool to support the monitoring of FDP shortening in people with DMD, who are able to extend their fingers.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251362027"},"PeriodicalIF":3.4,"publicationDate":"2025-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital-onset MLASA2 from a novel <i>YARS2</i> variant: A literature review.","authors":"Astrid Eisenkölbl, Hanns Lochmüller, Melissa T Carter, Leslie E Hamilton, Hugh J McMillan","doi":"10.1177/22143602251369227","DOIUrl":"https://doi.org/10.1177/22143602251369227","url":null,"abstract":"<p><p>IntroductionMLASA (myopathy, lactic acidosis and sideroblastic anemia) is a rare, autosomal recessive mitochondrial disorder. Symptom onset typically occurs in childhood and differs considerably in disease severity. Congenital-onset disease is uncommon.MethodsWhole genome sequencing was performed which identified two heterozygous, rare <i>YARS2</i> (NM_001040436.3) variants <i>in trans</i>, one of which was novel. The diagnosis was confirmed with muscle biopsy and mitochondrial enzyme activity testing. To compare the clinical phenotype of our patient to those previously described in the literature, we reviewed all <i>YARS2</i>-related cases in literature to identify age of symptom onset and associated clinical features.ResultsThe maternally-inherited variant, c.948G > T, p.(Arg316Ser), was previously reported with MLASA; the paternally-inherited variant, c.917T > C, p.(Phe306Ser) has not been previously reported. Muscle biopsy showed non-specific changes, that can be seen with mitochondrial dysfunction. Mitochondrial enzyme activity testing on frozen muscle tissue confirmed reduced complex I, III and IV activities.DiscussionIn our case report we describe a patient with MLASA, caused by compound heterozygous variants in <i>YARS2</i>. Our child with congenital-onset disease remains stable at 23 months old. Her stable course differs from two other children with congenital-onset disease who died in the first few days to months after birth. Mitochondrial enzyme activity testing is important to establish pathogenicity of novel variants in patients with this rare and clinically heterogeneous disease.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251369227"},"PeriodicalIF":3.4,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144847160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changes in RNA splicing as a surrogate endpoint for myotonic dystrophy Type 1 (DM1) clinical trials.","authors":"J Andrew Berglund, Aaron Novack, Iva Ivanovska Holder, Soma Ray, Nicholas E Johnson","doi":"10.1177/22143602251365101","DOIUrl":"https://doi.org/10.1177/22143602251365101","url":null,"abstract":"<p><p>Myotonic dystrophy type 1 (DM1) is a slowly progressive, multi-systemic disorder with clinical phenotypes that vary by age of onset and severity of symptoms. It is the most common form of muscular dystrophy occurring in adults. Abnormal regulation of alternative splicing of pre-mRNA results from a repeat expansion mutation in the dystrophia myotonica protein kinase (<i>DMPK</i>) gene. The resulting spliceopathy is universal across affected individuals and clinical phenotypes and drives the clinical manifestations of DM1, which include a diverse array of signs and symptoms affecting most organ systems. There is currently no disease-modifying treatment for DM1. Heterogeneity in the developmental and degenerative features and patterns of DM1 complicates the stratification, powering, and execution of interventional clinical trials in a reasonable timeframe. The use of splicing change as a surrogate endpoint in DM1 evolved from the principle that the degree of DM1-affected exons relates to the level of functional muscleblind-like (MBNL) RNA-binding protein activity in muscle cell nuclei. Surrogate endpoints based on panels of mis-splicing events reflecting the underlying DM1 molecular mechanism are reasonably likely to predict clinical benefit in a timely fashion, thus enabling accelerated clinical development of therapies that address unmet needs in DM1. Natural history data from the DM1 population support a strong correlation between dysregulated splicing and muscle function and point to the utility of a composite splicing index as a surrogate endpoint to predict future functional benefit, particularly in clinical trials of reasonable duration. Ongoing and future clinical trials will hopefully address the validity of surrogate endpoints using changes in splicing and whether the correction of spliceopathy correlates with meaningful clinical outcome assessments in individuals with DM1.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251365101"},"PeriodicalIF":3.4,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144847159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of imaging biomarkers and ambulatory functional endpoints in Duchenne muscular dystrophy clinical trials: Systematic review and machine learning-driven trend analysis.","authors":"Matthew Todd, Sanghoon Kang, Shunwen Wu, Devanand Adhin, Deok Yong Yoon, Rebecca Willcocks, Sarah Kim","doi":"10.1177/22143602251360664","DOIUrl":"10.1177/22143602251360664","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is a rare X-linked genetic muscle disorder affecting primarily pediatric males and leading to limited life expectancy. This systematic review of 85 DMD trials and non-interventional studies (2010-2022) evaluated how magnetic resonance imaging biomarkers-particularly fat fraction and T2 relaxation time-are currently being used to quantitatively track disease progression and how their use compares to traditional mobility-based functional endpoints. Imaging biomarker studies lasted on average 4.50 years, approximately 11 months longer than those using only ambulatory functional endpoints. While 93% of biologic intervention trials (n = 28) included ambulatory functional endpoints, only 13.3% (n = 4) incorporated imaging biomarkers. Small molecule trials and natural history studies were the predominant contributors to imaging biomarker use, each comprising 30.4% of such studies. Small molecule trials used imaging biomarkers more frequently than biologic trials, likely because biologics often target dystrophin, an established surrogate biomarker, while small molecules lack regulatory-approved biomarkers. Notably, following the 2018 FDA guidance finalization, we observed a significant decrease in new trials using imaging biomarkers despite earlier regulatory encouragement. This analysis demonstrates that while imaging biomarkers are increasingly used in natural history studies, their integration into interventional trials remains limited. From XGBoost machine learning analysis, trial duration and start year were the strongest predictors of biomarker usage, with a decline observed following the 2018 FDA guidance. Despite their potential to objectively track disease progression, imaging biomarkers have not yet been widely adopted as primary endpoints in therapeutic trials, likely due to regulatory and logistical challenges. Future research should examine whether standardizing imaging protocols or integrating hybrid endpoint models could bridge the regulatory gap currently limiting biomarker adoption in therapeutic trials.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251360664"},"PeriodicalIF":3.4,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond muscle: Delivering RNA therapeutics to the CNS in Duchenne muscular dystrophy.","authors":"Ophélie Vacca, Cathy Nagy, Aurélie Goyenvalle","doi":"10.1177/22143602251360668","DOIUrl":"https://doi.org/10.1177/22143602251360668","url":null,"abstract":"<p><p>Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration due to mutations in the dystrophin gene. In addition to the well-known musculoskeletal, cardiac, and respiratory symptoms, DMD also involves significant central nervous system (CNS) manifestations, including cognitive, behavioral, and emotional deficits that profoundly affect patient quality of life. Despite advances in RNA-based therapies targeting muscle symptoms, CNS manifestations remain largely untreated. Preclinical studies in animal models have shown promising results in addressing these deficits through CNS-targeted delivery of antisense oligonucleotides, highlighting the potential of intrathecal and next-generation systemic delivery methods. This review explores the latest advancements in RNA therapeutics for DMD, focusing on overcoming the challenges of CNS delivery to address both muscular and neurological symptoms.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251360668"},"PeriodicalIF":3.4,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144742285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.","authors":"Cristina Puig-Ram, Sonia Segovia, Rocio Garcia-Uzquiano, Nancy Carolina Ñungo Garzón, Karolina Aragon-Gawinska, Mar García Romero, Jesica María Expósito-Escudero, Laura Carrera-García, Mercedes López-Lobato, Carmen Paradas, Laura González Mera, Mireia Álvarez Molinero, David Gómez Andrés, Esther Toro, Joaquín Alejandro Fernández Ramos, Maria Antonia Grimalt, Laura Toledo Bravo de Laguna, Desire González Barrios, Eduardo F Tizzano, Maria Grazia Cattinari, Julita Medina, Rocío Calvo Medina, Francina Munell, Javier Sotoca, Eduardo Martínez-Salcedo, Antonio Moreno Escribano, Mónica Povedano Panadés, Miguel A Fernández-García, Inmaculada Pitarch-Castellano, Juan F Vázquez-Costa, Daniel Natera-de Benito, Andres Nascimento","doi":"10.1177/22143602251361190","DOIUrl":"https://doi.org/10.1177/22143602251361190","url":null,"abstract":"<p><p>BackgroundThe new treatment paradigm in Spinal Muscular Atrophy (SMA) has introduced novel phenotypes, changes in trajectories and clinical questions not fully addressed in clinical trials. To explore these challenges, several international initiatives have emerged. <i>CuidAME</i> was created as a nationwide clinical network in Spain designed to standardise SMA care, facilitate knowledge sharing, and capture data in a longitudinal comprehensive registry.ObjectiveEvaluating the usefulness of the <i>CuidAME</i> project to capture data in a real-world setting.MethodsThis multicentric cohort study includes individuals with SMA followed at participating hospitals. Clinical examinations and multidisciplinary assessments were performed during routine clinical visits. We present a cross-sectional analysis of the registry population.ResultsAs of February 2025, 543 participants from 25 hospitals were recruited: 12 were presymptomatic, 125 (23%) had SMA type 1, 208 (35%) type 2, 194 (38%) type 3, and 4 (<1%) type 4. Among the cohort, 91% (n = 495) had received at least one disease-modifier treatment, with 17 discontinuations. The registry included 5092 motor assessments, 1565 performed before treatment initiation.Conclusions<i>CuidAME</i> is an academic, longitudinal, real-world data collection project that demonstrated a fast and effective model for implementation facilitating the standardization of clinical practices and outcome measures across Spain. By aligning with core dataset used in other registries and establishing multidisciplinary working groups, the initiative will contribute to sharing knowledge to advance SMA care and improve patient outcomes.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251361190"},"PeriodicalIF":3.4,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Report on the rare disease consortium Japan inaugural symposium - July 18, 2023, shonan health innovation park, Japan.","authors":"Toshifumi Yokota, Naoto Inukai, Hiroyuki Shibasaki, Harumasa Nakamura, Shinnichi Yokota, Yoshitaka Nakamura, Rikako Yamauchi, Keiko Ishigami, Akitsu Hotta, Hideo Miki, Yoshitsugu Aoki","doi":"10.1177/22143602251356742","DOIUrl":"https://doi.org/10.1177/22143602251356742","url":null,"abstract":"<p><p>The Rare Disease Consortium Japan (RDCJ) is a newly formalized cross-sector initiative launched to address the urgent and growing needs of individuals living with rare diseases in Japan, aiming to support a wide range of rare conditions, including-but not limited to-neuromuscular diseases. RDCJ hosted its inaugural symposium on July 18, 2023, at the Shonan Health Innovation Park. This symposium aimed to address the unique challenges of rare diseases through a collaborative approach involving industry, government, academia, patients, and the community. The event brought together these stakeholders to discuss the current state and future directions of rare disease research and treatment in Japan. The event featured a range of speakers and panel discussions on the state of drug development, patient journeys, and the future of patient-centered healthcare services. Highlights included a keynote on antisense oligonucleotide therapeutics and sessions on patient-centered healthcare, human-centered design in healthcare, and innovative approaches to rare disease treatment. This report provides a detailed overview of the symposium, the key takeaways from each session, and the future directions for RDCJ.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251356742"},"PeriodicalIF":3.2,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}