Journal of neuromuscular diseases最新文献

{"title":"Systematic review for economic evaluations on newborn screening for spinal muscular atrophy.","authors":"Alexander C Pace, Corrina Poon, Pranesh Chakraborty, Maryam Oskoui, Hugh McMillan, Alex Mackenzie, Jeff Round","doi":"10.1177/22143602251336862","DOIUrl":"https://doi.org/10.1177/22143602251336862","url":null,"abstract":"<p><p>ObjectiveEvaluate the quality and cost-effectiveness of economic evaluations of newborn screening (NBS) for Spinal Muscular Atrophy (SMA).MethodsA systematic review was conducted following Cochrane Handbook guidelines and PRISMA-S checklist. From 146 identified papers, 22 were screened for full-text, and 5 were included. Studies were evaluated for quality of reporting and transparency using the CHEERs and QHES checklists. Data was extracted to inform the review.ResultsFour economic evaluations on NBS for SMA with high reporting quality were identified. Each study employed a cost-utility analysis with similar model structures, using a decision tree for screening and a Markov model for treatment outcomes. They each compared NBS with treatment vs clinical diagnosis (no screening) with treatment. Although treatment protocols of each study varied due to differences in the strategies considered and availability of treatment. All studies included a societal perspective in their analysis and considered a lifetime horizon ranging from 30 months to 100 years. Early NBS with treatment was found to be more cost-effective than late treatment in all studies with ICER values ranging from £-117,541 to $714,000 per QALY. The wide range of ICER values are due to assumptions of long-term outcomes which are still largely unknown.ConclusionNBS with treatment was found to be cost-effective by all studies when compared to no NBS and late treatment. Although there is uncertainty around long term outcomes. Future research should focus on collecting long-term efficacy and safety data and evaluating the cost-effectiveness of pre-symptomatic treatment.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251336862"},"PeriodicalIF":3.2,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119626","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":"Altered reversal and extinction learning in the DMSXL mouse model of type I myotonic dystrophy (DM1): An exploratory study.","authors":"Sylvia Nieuwenhuis, Denys Kozakov, Kasia Kapusta, Geneviève Gourdon, Jeffrey C Glennon","doi":"10.1177/22143602251339350","DOIUrl":"https://doi.org/10.1177/22143602251339350","url":null,"abstract":"<p><p>BackgroundCognitive changes in type 1 myotonic dystrophy (DM1) have a pronounced negative effect on quality of life measures. Despite this, the neural basis of these changes is poorly understood. DM1 patients demonstrate deficits in motivation and cognitive flexibility, reflective of apathy and obsessive-compulsive / autistic-like traits.ObjectiveThese traits can be readily assessed using reversal learning and appetitive extinction tasks. Reversal learning assesses the ability to learn following a change in a rule and can evaluate cognitive flexibility and habitual responding, while appetitive extinction assesses the ability to suppress a stimulus-action response following the change in the stimulus-reward relationship from rewarded to non-rewarded.MethodsIn this study we evaluated the performance of a mouse model of DM1, the DMSXL mouse in reversal learning and appetitive extinction tasks.ResultsSimilar to C57/BL6 wild type (WT) mice, DMSXL mice were able to learn stimulus reward relationships, however, in the late phase of reversal learning experiment DMSXL mice demonstrated increased habit-like behavior (increased number of correct responses). Following rule switching, DMSXL mice produced an increased number of errors compared to WT and showed increased latency to deliver correct responses. In the extinction task, DMSXL mice showed the ability to more rapidly extinguish a previously rewarded response than WT mice.ConclusionsThese findings constitute differences in cognitive flexibility, rule learning and motivation between DMSXL and WT mice which may inform our understanding of cognitive changes in DM1.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251339350"},"PeriodicalIF":3.2,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119624","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":"Pain in adult and adolescent patients with 5q-associated Spinal Muscular Atrophy - an often underrated phenomenon.","authors":"Lisa M Keipert, Claudia D Wurster, Zeljko Uzelac, Johannes Dorst, Joachim Schuster, Kurt Wollinsky, Albert Ludolph, Dorothée Lulé","doi":"10.1177/22143602251325773","DOIUrl":"https://doi.org/10.1177/22143602251325773","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a genetic disorder leading to progressive muscle weakness and atrophy. Pain in SMA may be the consequence of the underlying neuromuscular disease but has hardly been investigated so far.</p><p><strong>Objective: </strong>To assess pain in SMA and its interaction with patient's wellbeing.</p><p><strong>Methods: </strong>In a prospective, cross-sectional study design, 70 adult and adolescent SMA patients (median age 30 years, IQR 21-49 years, types I-IV) were assessed at the Department of Neurology, Ulm University hospital. Pain was evaluated with a self-adapted Pain Scale, depressiveness with the ALS-Depression-Inventory-12-Items (ADI-12) and global Quality of Life (gQoL) with the Anamnestic Comparative Self-Assessment (ACSA).</p><p><strong>Results: </strong>We found an intermittent frequency of pain in 80% in SMA patients with more than half of the patients experience pain at least once a week. The mean pain intensity score estimated by pain frequency and strength was 24 on a scale of 0 to 240, indicating a frequently appearing mild to moderate pain. Pain was mostly located in the lumbar spine, hip, and thoracic spine. The pain intensity score was independent from demographics (age, gender) or clinical parameters (SMA type, physical state), but, instead, it was associated to depressiveness. Depressiveness was more prevalent in older SMA patients. gQoL was rather independent from pain intensity or physical state.</p><p><strong>Conclusions: </strong>The study provides evidence for a prevalence of mild to moderate pain in 80% of adult and adolescent SMA patients. Pain was not simply caused by physical deficits and did not severely interfere with patients' quality of life, but, instead, was closely interrelated with patients' affective state.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251325773"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111067","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":"A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.","authors":"Milla Laarne, Ali Oghabian, Jenni Laitila, Pirjo Isohanni, Olli Tynninen, Fang Zhao, Fanny Rostedt, Jaakko Sarparanta, Lydia Sagath, Michael W Lawlor, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari, Katarina Pelin","doi":"10.1177/22143602251339569","DOIUrl":"https://doi.org/10.1177/22143602251339569","url":null,"abstract":"<p><strong>Background: </strong>Slow skeletal troponin T (ssTnT, <i>TNNT1</i>) is the tropomyosin-binding subunit of the troponin complex in the slow-twitch fibers of skeletal muscle. Exon 5 of <i>TNNT1</i> is alternatively spliced, and retention of the 3' region of intron 11 (exon 12') has also been described. Variants in <i>TNNT1</i> are known to cause nemaline myopathy (NM).</p><p><strong>Objective: </strong>To identify and further investigate the disease-causing variant in a patient with lethal NM.</p><p><strong>Methods: </strong>The genetic analyses included a gene panel, Sanger sequencing, whole-exome sequencing, and targeted array-CGH. Muscle biopsy was analyzed using routine histopathological methods. The alternative splicing of <i>TNNT1</i> exon 12 in patient muscle was quantified from RNA sequencing data, and the protein expression was confirmed by western blot. Expression of ssTnT in patient muscle was studied by immunohistology.</p><p><strong>Results: </strong>The patient presented with arthrogryposis, stiffness, respiratory insufficiency, and minimal spontaneous movements. Histopathology showed hypotrophy and predominance of type II fibers, perimysial connective tissue accumulation, and nemaline bodies. The patient was homozygous for the <i>TNNT1</i> missense variant (NM_003283.6:c.653C > G, p.(Pro218Arg), NM_ 001126132.3:c.612-7C > G), predicted to disrupt splicing. RNA-seq revealed inclusion of exon 12' in 49.85% of transcripts, whereas in controls exon 12' was not expressed. Exon 12' expression on the protein level was confirmed by western blot. Immunohistology showed strong ssTnT expression in remaining type I fibers, and low expression in type IIA fibers.</p><p><strong>Conclusions: </strong>The c.653C > G variant was shown to alter <i>TNNT1</i> splicing. The results suggest a novel pathogenetic mechanism involving abnormal expression of a troponin T isoform.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251339569"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111064","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":"Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.","authors":"Kenneth I Berger, Cristina Ivanescu, Jérôme Msihid, Magali Periquet, Alaa Hamed, Kristina An Haack, Tianyue Zhou, Nadine van der Beek, Matthias Boentert, Ruth Pulikottil-Jacob, Laurence Pollissard","doi":"10.1177/22143602251332829","DOIUrl":"https://doi.org/10.1177/22143602251332829","url":null,"abstract":"<p><p>BackgroundRespiratory impairment in neuromuscular disorders (NMDs) is generally assessed using forced vital capacity (FVC). Any improvement in FVC trajectory will delay ventilatory support; however, the change required for patients to perceive a noticeable clinical benefit, the clinically meaningful threshold (CMT), has not been defined in NMDs.ObjectiveTo derive the within-person and between-group CMTs for FVC (% predicted) in patients with late-onset Pompe disease (LOPD).MethodsThis analysis leverages data from the Phase 3 COMET trial (NCT02782741, registered 25 May 2016), which assessed the efficacy of avalglucosidase alfa (AVA) versus alglucosidase alfa (ALG) on upright FVC (% predicted) in LOPD. Anchor- and distribution-based methods were used to estimate the within-person and between-group CMTs for FVC at Weeks 49 and 97.ResultsCOMET enrolled 99 participants aged ≥18 years (52% male; mean age 48.0 years). The within-person CMT for absolute change in FVC expressed as % predicted was estimated as 3.0% [95% confidence interval (CI) 2.3, 3.8]. The proportion of patients with a meaningful increase in FVC was higher in the AVA versus ALG group across the CI of the estimated CMT (odds ratios: 2.3-2.6; nominal p-values: 0.026-0.058). The between-group CMT, needed to evaluate differences between treatment groups, was estimated as 2.1% predicted [95% CI 1.1, 3.1].ConclusionsWe identified a narrow range of within-person and between-group CMTs for upright FVC (% predicted) in LOPD. <i>Post hoc</i> application of these thresholds to COMET showed that a greater proportion of patients in the AVA group had clinically meaningful improvement in FVC versus ALG. These findings may aid in interpretation of data from studies in other NMDs.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251332829"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111065","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":"Exploring self-management of diet and physical activity in <i>CACNA1S</i>-related hypokalemic periodic paralysis: A qualitative interview study.","authors":"Natasha Lervaag Welland, Benedicte Hagen Venås, Mari Ellefsen-Martinsen, Hanne Ludt Fossmo, Andreas Dybesland Rosenberger, Helene Dahl, Kristin Ørstavik, Marianne Nordstrøm","doi":"10.1177/22143602251342400","DOIUrl":"https://doi.org/10.1177/22143602251342400","url":null,"abstract":"<p><strong>Background: </strong>Hypokalemic Periodic Paralysis (HypoPP) is a rare genetic neuromuscular disorder characterized by attacks of skeletal muscle weakness or paralysis with spontaneous recovery. The attacks are frequently triggered by specific factors, and previous studies have identified certain associated lifestyle factors, such as dietary intake and physical activity. However, there is currently no in-dept knowledge on how patients experience and self-manage triggering factors in their everyday life.</p><p><strong>Objective: </strong>In this study, we aimed to explore patients' experiences with dietary intake and physical activity through semi-structured interviews. The research question was: Which strategies do individuals with HypoPP utilize in relation to dietary intake and physical activity to prevent or self-manage attacks of muscle weakness and paralysis?</p><p><strong>Methods: </strong>The study included 14 participants aged 21-58 years with HypoPP due to abnormalities in calcium channel function caused by pathogenic variants in the <i>CACNA1S</i> gene. The interviews were transcribed and analysed using Malterud's systematic text condensation.</p><p><strong>Results: </strong>The participants experienced that regular meals with controlled portions of complex carbohydrates, limited intake of simple carbohydrates, engaging in regular mild to moderate exercise combined with warm-up and cool-down, and avoiding physical inactivity made them less vulnerable to attacks of muscle weakness and paralysis. Furthermore, participants highlighted the cumulative effect of triggers, by consistently reporting feeling more susceptible to attacks when exposed to multiple triggers simultaneously.</p><p><strong>Conclusions: </strong>The participants experienced self-management through dietary modifications and adjustments in physical activity to reduce symptoms in <i>CACNA1S</i>-related HypoPP. A novel finding was the experienced cumulative effect of lifestyle-related triggering factors.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251342400"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111066","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":"Pilot study of canakinumab (Ilaris) in steroid naïve children with Duchenne muscular dystrophy demonstrates safety and exploratory changes in potential serum protein response biomarkers.","authors":"Christopher F Spurney, Jessica Chong, Heather Gordish-Dressman, Yetrib Hathout","doi":"10.1177/22143602251319177","DOIUrl":"https://doi.org/10.1177/22143602251319177","url":null,"abstract":"<p><strong>Background: </strong>Duchenne muscular dystrophy (DMD) is a progressive muscular disease associated with muscle fiber degeneration and increased inflammatory responses including Interleukin-1 beta (IL-1β) and other cytokines. Canakinumab (Ilaris) is an anti-human IL-1β monoclonal antibody that neutralizes IL-1β.</p><p><strong>Methods: </strong>We completed an open-label, single dose pilot study of canakinumab 2 mg/kg subcutaneous injection in steroid naïve boys with DMD older than 2 years of age to determine safety and potential serum response biomarkers of efficacy at 4-weeks post treatment. Proteome profiling was performed using high throughput multiplexing aptamer SomaScan assay based technology targeting 1,500 unique serum proteins.</p><p><strong>Results: </strong>Three subjects completed the study with no adverse events reported and no significant changes in safety labs. Proteomic analysis within 4 weeks of treatment identified significantly decreased inflammation associated factors including plasma serine protease inhibitor, interleukin-6 receptor alpha, Lymphocyte antigen 86, Immunoglobulin D and myostatin. Significantly increased proteins included muscle-associated proteins aldolase A and lactate dehydrogenase B.</p><p><strong>Conclusions: </strong>Canakinumab 2 mg/kg dose is safe for children with DMD and demonstrated potential response biomarkers of efficacy in treating related muscle disease. Canakinumab did not affect the circulating levels of IL-1β but did decrease some key proinflammatory markers and myostatin. Increased muscle specific proteins could be associated with increased physical activities or damage seen in young patients with DMD. Further studies using canakinumab for a longer treatment period may demonstrate increased benefit.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251319177"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111069","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":"Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.","authors":"Victoria Saenz, Marijana Chlistalla, Nayara Carlos, Claudia Castiglioni, Maria Soledad Monges, Laurent Servais, Edmar Zanoteli","doi":"10.1177/22143602251320267","DOIUrl":"https://doi.org/10.1177/22143602251320267","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease associated with a significant burden of illness to both patients and caregivers; however, there is little evidence available regarding how patients and caregivers evaluate potential treatment benefit-risk profiles. As access to SMA disease-modifying therapies increases, it is imperative to understand which treatment attributes drive treatment choices.</p><p><strong>Objective: </strong>To identify which treatment attributes drive treatment choices in adults with SMA and caregivers of children with SMA across nine countries in Latin America.</p><p><strong>Methods: </strong>A discrete choice experiment (DCE) survey was developed for market research using data collected via qualitative interviews and consultations with medical experts. Adults with Type 2/3 SMA and caregivers of children with Types 1-3 SMA were recruited by patient advisory groups and physician referrals. Respondents completed a 30-min, online survey that collected patient demographics, disease-specific information, and quality of life data (via the EQ-5D-5L), and included the DCE, in which respondents were asked to choose between 14 sets of hypothetical treatment profiles. Data were pooled for analysis, as the country-level sample sizes were small. Raw data were aggregated in Microsoft Excel. Statistical testing was performed using data tables and SPSS (as appropriate). Demographic data were summarized descriptively.</p><p><strong>Results: </strong>A total of 143 respondents (45 adults with SMA and 98 caregivers) completed the online survey. Most respondents were from Argentina (35.0%) or Brazil (19.6%). Breathing function outcome was the most important treatment attribute for caregivers, while adults with SMA placed greater importance on motor function outcome. Both adults with SMA and caregivers placed the greatest importance on improvements in function compared with worse or stable outcomes.</p><p><strong>Conclusions: </strong>Understanding treatment attribute preferences at a regional level will improve shared medical decision-making for individuals with SMA.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251320267"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111068","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":"Short- and long-term natural history of three neurodegenerative biomarkers among middle-aged and older adults.","authors":"Rikuta Hamaya, Pamela M Rist, Varant Kupelian, Anthony L Gotter, Jihee Sohn, Carrie E Rubel, J Michael Gaziano, JoAnn E Manson, Howard D Sesso","doi":"10.1177/22143602241301636","DOIUrl":"https://doi.org/10.1177/22143602241301636","url":null,"abstract":"<p><strong>Background: </strong>Little is known about the longitudinal trajectories of novel neurodegenerative biomarkers including neurofilament light (NfL), tau, and glial fibrillary acidic protein (GFAP).</p><p><strong>Objectives: </strong>We aimed to investigate the short- and long-term natural history of these biomarkers measured longitudinally among healthy adults.</p><p><strong>Methods: </strong>In this cohort study from the Physicians' Health Study (PHS), VITamin D and OmegA-3 TriaL (VITAL), and COcoa Supplement and Multivitamin Outcomes Study (COSMOS), we included 1299 adults with bloods collected 2 years (VITAL and COSMOS) or 14 years (PHS) apart and without diagnosed neurodegenerative diseases before baseline or during follow-up through two years after the final blood collection. Associations between baseline characteristics and changes in NfL, tau, and GFAP were evaluated.</p><p><strong>Results: </strong>Mean (SD) age at baseline was 49.8 (6.8), 67.5 (6.2), and 70.3 (5.7) in PHS, VITAL, and COSMOS, respectively. PHS enrolled only men while ∼50% of the VITAL and COSMOS populations in this study were men. Median percent changes (IQR) of NfL were 40.6% (2.4, 58.2) increase over 14 years (PHS) and 8.5% (-6.6, 28.6) over 2 years (VITAL and COSMOS); increases in tau were 101% (10.7, 285) over 14 years and 11.8% (-35.2, 106) over 2 years; and increases in GFAP were 25.1% (-1.7, 23.8) over 14 years and 5.6% (-12.8, 28.6) over 2 years. In multivariable models, age was most strongly and robustly associated with 14-year changes in NfL and GFAP (adjusted p<0.001), and increases in levels accelerated at older ages. No baseline variables were associated with changes in tau.</p><p><strong>Conclusion: </strong>Increases in NfL and GFAP accelerated with age, highlighting the need to improve our understanding of the clinical relevance of short- and long-term changes in these neurodegenerative biomarkers in large-scale, long-term cohorts.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602241301636"},"PeriodicalIF":3.2,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111070","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":"Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.","authors":"Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel, Pilar Camaño, Juan José Poza, Roberto Fernández-Torrón, Adolfo López de Munain, Amets Sáenz","doi":"10.1177/22143602251323629","DOIUrl":"https://doi.org/10.1177/22143602251323629","url":null,"abstract":"<p><p>We aimed to investigate the validity of urinary N-terminal titin (TTN) fragment as a biomarker for limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Thirteen LGMDR1 patients and eleven healthy controls were enrolled for the study. LGMDR1 patients had significantly increased urinary N-terminal titin fragment concentrations than age-matched controls. Even if urinary level of titin decreased with aging, it was still high in wheelchair bound patients. Thus, our findings indicate that urinary N-terminal titin fragment is a non-invasive measure of muscle damage in LGMDR1, which could be used in disease monitoring in clinical trials even in wheelchair-bound patients.</p>","PeriodicalId":16536,"journal":{"name":"Journal of neuromuscular diseases","volume":" ","pages":"22143602251323629"},"PeriodicalIF":3.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001985","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}