Muscle & Nerve最新文献

{"title":"Patient With Duchenne Muscular Dystrophy Who Tolerated Viltolarsen After Prior Anaphylaxis to Golodirsen.","authors":"Julia Bassell-Hawkins, Cara Piccoli, Carolina Tesi Rocha","doi":"10.1002/mus.28474","DOIUrl":"10.1002/mus.28474","url":null,"abstract":"","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1188-1189"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Educational Value and Content Quality of YouTube Videos on Myasthenia Gravis.","authors":"Hatice Betigül Meral, Tehran Aliyeva, Eren Toplutaş","doi":"10.1002/mus.28490","DOIUrl":"10.1002/mus.28490","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Although numerous YouTube videos on myasthenia gravis (MG) are available, the educational quality and comprehensiveness of this digital health information have not been assessed. This study addresses that gap using structured scoring tools to evaluate informational value for both patients and healthcare professionals.</p><p><strong>Methods: </strong>A systematic search on December 3, 2024, retrieved the top 50 English-language YouTube videos on MG. The videos were assessed using the modified DISCERN scale (1-5), Global Quality Scale (GQS; 1-5), and a custom comprehensiveness checklist (0-5). Descriptive, comparative, and inter-rater analyses were performed. Group comparisons used the Kruskal-Wallis test; associations were analyzed with Spearman's correlation.</p><p><strong>Results: </strong>Substantial agreement was observed (κ = 0.79). The median video duration was 8 min with a median of 53,459 views. The mean DISCERN score was 3.18 (±1.06), indicating moderate quality of treatment-related information; the mean GQS score was 2.88 (±1.02), reflecting moderate overall usefulness and coherence; and the mean comprehensiveness score was 2.78 (±1.11), showing moderate coverage of educational content. Higher comprehensiveness was positively associated with longer duration, more likes, and professional orientation (p < 0.05). The educational content varied: symptoms (84%) and treatments (70%) were commonly covered, whereas rehabilitation (8%) and long-term management (10%) were rarely included.</p><p><strong>Discussion: </strong>Although the mean scores indicated moderate quality, significant variability in educational depth was observed. The limited representation of rehabilitation and chronic care content suggests the need for more comprehensive and balanced digital resources on MG.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1067-1073"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144743172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the Quantitative Myasthenia Gravis and Myasthenia Gravis Activity of Daily Living Scores From a Clinical Practice Perspective.","authors":"Wanqing Wu, Malin Petersson, Fredrik Piehl, Susanna Brauner","doi":"10.1002/mus.70013","DOIUrl":"10.1002/mus.70013","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Myasthenia gravis (MG) is characterized by fluctuating symptoms, making the assessment of disease activity challenging. Discordance between the clinician-reported quantitative myasthenia gravis (QMG) score and the patient-reported MG activity of daily living (MG-ADL) has previously been observed. We aimed to compare QMG and MG-ADL in a clinical practice setting and to relate to the quality-of-life instrument myasthenia gravis quality of life 15 (MG-QoL-15).</p><p><strong>Methods: </strong>MG patients simultaneously assessed by QMG, MG-ADL, and MG-QoL-15 (n = 177) identified in the Swedish MG registry were included. The distribution of total scores for QMG and MG-ADL and per-item score discordance was investigated using the Chi-squared test and paired t-tests. Multivariate linear regression models were constructed to identify factors associated with QMG and MG-ADL.</p><p><strong>Results: </strong>MG-ADL exhibited a lower floor effect compared to QMG (14% vs. 28%, p = 0.002) and patients reported significantly worse scores with MG-ADL than QMG, particularly in bulbar and respiratory items (for breathing item 38% MG-ADL > QMG vs. 5% MG-ADL < QMG score). Multivariate analysis revealed that new-onset status, MG-QoL-15 score, and a history of prednisolone treatment were significantly associated with QMG scores, whereas only MG-QoL-15 was significantly associated with MG-ADL. These associations were driven by symptom-associated questions in MG-QoL-15, while the emotional well-being questions were associated with neither QMG nor MG-ADL.</p><p><strong>Discussion: </strong>We observed that MG-ADL more readily identified residual symptoms in patients with mild disease activity compared to QMG; however, with a stronger influence of quality of life, suggesting a complementarity of the two scores in clinical practice.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1100-1107"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12529032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normal Values of Sympathetic Skin Responses in Children and Their Clinical Significance.","authors":"Hailang Liu, Yu Deng, Qian Tang, Ziyan Li, Xinghui Lan, Jin Chen, Siqi Hong, Li Jiang","doi":"10.1002/mus.28473","DOIUrl":"10.1002/mus.28473","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The sympathetic skin response (SSR) is a well-established measure of sudomotor function in adults, but pediatric reference values remain undefined. We established age-stratified normative values for SSR latency and amplitude in healthy children and investigated how these values change during development.</p><p><strong>Methods: </strong>The study enrolled 185 pediatric participants: 176 in the healthy group (no anticholinergic medications, neurological/autoimmune/oncological disorders) and 9 in the clinical group with suspected sympathetic dysfunction.</p><p><strong>Results: </strong>SSR waveforms were not elicitable in 4 children under 4 years of age, but were recordable in all children over 4 years old. SSR latency for the hand was significantly shorter than that for the foot across all age groups; although the latencies for the hand and foot correlated positively with age, the correlations were weak to moderate (p < 0.05). Participants were categorized into four age groups (≤ 4, 5-9, 10-13, and ≥ 14 years) based on the latency-age trend inflection points established from the plotted trajectory. SSR amplitude for the hand (6.8 mV (interquartile range [IQR] 3.38, 12.5)) was significantly higher than that for the foot (3.5 mV (IQR 1.77, 6.50)), but neither correlated with age and the variation was large. The manifestation of suspected sympathetic nerve dysfunction in the patients was primarily a decrease in amplitude, absent response, or increased latency.</p><p><strong>Discussion: </strong>This study provides a reliable method for clinicians and researchers to assess sympathetic nerve function in children by combining SSR amplitude and latency.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1060-1066"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144699097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reliability and Validity of the Reachable Workspace Total Score With Wrist Weight in Facioscapulohumeral Muscular Dystrophy.","authors":"Lena Hubig, Adi Eldar-Lissai, Siu Hing Lo, John Jiang, David Cella, Sarah Acaster","doi":"10.1002/mus.70002","DOIUrl":"10.1002/mus.70002","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Facioscapulohumeral muscular dystrophy (FSHD) is characterized by relentlessly progressive muscular weakness, impacting patients' daily functioning, health-related quality of life (HRQoL), and activities of daily living (ADLs), particularly those that require upper extremity (UE) function. Reachable workspace (RWS) is a performance outcome (PerfO) measure for UE function in FSHD. This study aimed to explore the reliability and validity of RWS average (for both arms) Total relative surface area (RSA) Q1-Q5 with 500 g wrist weight score (\"Total Q1-Q5 RSA score\") in FSHD.</p><p><strong>Methods: </strong>Data were sourced from the Phase 2 ReDUX4 clinical trial. Test-retest reliability and convergent validity of the Total Q1-Q5 RSA score were evaluated. The following outcome measures were included in the analyses: Timed up and go (TUG) and FSHD TUG, manual dynamometry, FSHD-health index, patient's global impression of change, Ricci Clinical Severity Scale (CSS), and musculoskeletal magnetic resonance imaging (MRI).</p><p><strong>Results: </strong>Almost perfect test-retest reliability (ICC = 0.98) and good convergent validity with moderate (|r| ≥ 0.3) correlations with most ADL items, clinical severity and UE muscle strength were shown.</p><p><strong>Discussion: </strong>Psychometric evidence supports the reliability and validity of the Total RSA Q1-Q5 score as a measure of UE function in FSHD and contributes to the evidence for its use as an outcome in clinical trials of FSHD. Additional study is required to explore responsiveness to change.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1074-1080"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144835828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three-Dimensional Magnetic Resonance Imaging of Median Nerve Volume for Assessing Carpal Tunnel Syndrome Severity.","authors":"Kazuki Hayakawa, Taku Suzuki, Katsuhiko Hayakawa, Yusuke Kawano, Takuji Iwamoto, Nobuyuki Fujita","doi":"10.1002/mus.70010","DOIUrl":"10.1002/mus.70010","url":null,"abstract":"<p><strong>Introduction/aims: </strong>3D magnetic resonance imaging (MRI) is a tool for visualizing and quantifying the volume of the median nerve; however, the diagnostic value of the volume of the median nerve for assessing CTS severity is unclear. This study aimed to evaluate the utility of 3T MRI combined with three-dimensional (3D) imaging to assess the cross-sectional volume (CSV) of the median nerve for diagnosing carpal tunnel syndrome (CTS) and determining its severity.</p><p><strong>Methods: </strong>We used MRI to measure the CSV of the median nerve in 95 patients with CTS and 26 healthy controls. CTS severity was graded according to the Padua classification, and differences in CSV according to severity were analyzed.</p><p><strong>Results: </strong>The mean CSVs for the severity groups were as follows: control, 22.4 mm³; minimal, 28.8 mm³; moderate, 34.4 mm³; severe, 53.6 mm³; and extreme, 48.3 mm³. CSV increased with CTS severity, with significantly higher values in the severe and extreme groups compared with the moderate, minimal, and control groups.</p><p><strong>Discussion: </strong>This study showed that the CSV of the median nerve increased with disease severity, both visually and in three dimensions. This helps to visually understand the severity of CTS, and the association between morphology and disease severity may contribute to a better understanding of the pathophysiology of CTS.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1117-1121"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12529045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144961900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Burden of Motor Neuron Diseases in the United States, 1990-2021: A Systematic Analysis of the Global Burden of Disease Study 2021.","authors":"Yun-Seo Oh, Raon Jung, Dong Keon Yon, Min-Seo Kim, Joon-Ho Shin, Jae Il Shin, Tae-Jin Song","doi":"10.1002/mus.70023","DOIUrl":"10.1002/mus.70023","url":null,"abstract":"<p><strong>Introduction/aims: </strong>There is a lack of up-to-date information on the burden of motor neuron diseases (MNDs) in the United States (US). This study aimed to estimate trends in the prevalence, incidence, mortality, and disability-adjusted life years (DALYs) for MNDs in the US from 1990 to 2021.</p><p><strong>Methods: </strong>We performed a secondary analysis of MNDs in the US using estimates of prevalence, incidence, and mortality obtained from analyses of the Global Burden of Disease 2021 dataset. These data were generated using DisMod-MR 2.1, a Bayesian meta-regression tool. Estimates were analyzed by age group, sex, region, and sociodemographic index (SDI).</p><p><strong>Results: </strong>In 2021, the age-standardized prevalence rate of MNDs in the US was 8.82 (95% uncertainty interval, 7.96-9.74) per 100,000, a 12.89% (3.10-23.66) increase from 1990 (7.82 per 100,000). Age-standardized MND-related DALY and mortality rates in 2021 were 41.36 (39.47-42.94) and 1.49 (1.38-1.56) per 100,000, respectively, increases of 4.14% (0.41%-7.68%) and 18.34% (13.86%-22.70%) compared to 1990. Geographic disparities were observed, with the West North Central reporting the highest DALY rates and the Middle Atlantic showing the lowest. The burden of MNDs was consistently greater in males across all metrics, with a male-to-female ratio of approximately 1.4:1. SDI was negatively correlated with age-standardized DALYs, years of life lost, and mortality rates.</p><p><strong>Discussion: </strong>The observed burden of MNDs in the US highlights the necessity for targeted public health interventions; equitable resource distribution; and further research into environmental, genetic, and sociodemographic factors that contribute to MNDs.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1130-1142"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12529030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145030129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Dog-Assisted Occupational Therapy on Upper Limb Functions in ALS and Other Neuromuscular Disorders: A Randomized Controlled Pilot Study.","authors":"Elisa Giove, Pilar Maria Ferraro, Mirela Lungu, Lara Pasquinelli, Romina Truffelli, Clotilde Trinchero, Bruna Rebagliati, Claudia Caponnetto, Manuela Vignolo, Fabrizio Rao","doi":"10.1002/mus.70012","DOIUrl":"10.1002/mus.70012","url":null,"abstract":"<p><strong>Introduction/aims: </strong>The beneficial effects of animal-assisted therapy (AAT) on balance, walking endurance, and mood symptoms in amyotrophic lateral sclerosis (ALS) have been previously demonstrated. In this study, we aimed at expanding upon these findings by further evaluating its effects on upper limb (UL) functions and mood symptoms both in ALS and other neuromuscular disorders (NMDs).</p><p><strong>Methods: </strong>Sixty-eight patients participated in a regular 2-week occupational therapy program once a day. For three days a week, in place of the traditional treatment, the AAT group (N = 34) performed a session in interaction with the therapy dog. Outcome measures included hand grip strength, manual dexterity, and mood symptoms. Differences between baseline and post-treatment values were assessed using the Wilcoxon Signed-Rank Test, and one-way analysis of covariance was used to examine between-group differences in post-treatment values, adjusting for baseline measurements.</p><p><strong>Results: </strong>Both groups improved in hand grip strength (p = 0.004-0.03), whereas mood symptoms improved exclusively in the AAT group (p = 0.0003-0.03). Post-treatment values were significantly better in the AAT group (p = 0.01-0.03). When ALS patients were analyzed separately, the improvement of hand grip strength and mood symptoms was observed only in the AAT group (p = 0.001-0.04), which accordingly showed better post-treatment values (p = 0.0007-0.05).</p><p><strong>Discussion: </strong>Our findings indicate that AAT has greater beneficial effects than traditional treatments on UL strength and mood symptoms. These findings have the potential to facilitate more effective rehabilitation strategies both in ALS and other NMDs.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1122-1129"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Cross-Sectional Study of Quality of Life and Body Image in Myasthenia Gravis Patients: A Novel Approach Using the Individualized Neuromuscular Quality of Life Questionnaire.","authors":"Michael Chou, Meg Mendoza, Hans Katzberg, Vera Bril, Carolina Barnett-Tapia","doi":"10.1002/mus.70000","DOIUrl":"10.1002/mus.70000","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Many generic and disease-specific quality of life (QoL) measures have been used to understand the perspectives of patients with myasthenia gravis (MG). However, there is limited data regarding the use of the Individualized Neuromuscular Quality of Life Questionnaire (INQoL) and the impact of body image in patients with MG.</p><p><strong>Methods: </strong>This was a cross-sectional cohort of 258 patients with MG who completed several QoL measures, including the INQoL, 36-Item Short Form Survey (SF-36) and 15-Item Myasthenia Gravis Quality of Life Scale (MG-QoL15). We compared scores of different QoL measures with each other and also compared SF-36 scores to the general population. Linear regression models were built to investigate factors associated with QoL and body image in MG patients.</p><p><strong>Results: </strong>MG patients had lower SF-36 scores compared to the general population. Of the different QoL measures, the INQoL correlated the strongest with the MG-QoL15 (r = 0.80, p < 0.05). Worse QoL (measured by the INQoL) was significantly correlated with increased disease severity (p = 0.0054) and fatigue (p = 0.0019), younger age (p = 0.0471), and retirement (p = 0.0450). Worse INQoL body image scores were significantly associated with increased fatigue (p = 0.0189) and ptosis severity (p = 0.0298).</p><p><strong>Discussion: </strong>The INQoL showed that body image is negatively affected in people with MG, suggesting it poses a burden and may be worth considering when measuring QoL. Further studies are needed to assess other factors associated with reduced body image, besides ptosis and fatigue, in people living with MG.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1091-1099"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12529042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multicenter Expanded Access Protocol for Research Through Access to Trehalose in People With Amyotrophic Lateral Sclerosis.","authors":"Brooke Krivickas, Erica Scirocco, Elisa Giacomelli, Saloni Sharma, Molly Benson, Mackenzie Keegan, Jennifer Kulesa-Kelley, Lori B Chibnik, Gabriella Casagrande, Lindsay Heyd, Marianne Chase, Kristin Drake, Silpa Mohapatra, Jennifer Linn Hagar, Meredith Gibbons Hasenoehrl, Derek Dagostino, Alexander V Sherman, Alex Leite, Hong Yu, Jesse Rosenthal, Timothy Miller, Alexandra McCaffrey, Kelly Gwathmey, Eduardo Locatelli, Elham Bayat, Daragh Heitzman, Eufrosina Young, Namita A Goyal, Jackie Whitesell, Kevin Felice, Hristelina Ilieva, Andrea Swenson, David Walk, Gustavo Alameda, Laura Foster, Courtney E McIlduff, Alison Walsh, Lindsay Zilliox, Senda Ajroud-Driss, Cynthia Bodkin, Jonathan Katz, Shafeeq Ladha, Michael Rivner, Laura Rosow, Paul Twydell, Warren Wasiewski, Suma Babu, James D Berry, Sabrina Paganoni","doi":"10.1002/mus.70011","DOIUrl":"10.1002/mus.70011","url":null,"abstract":"<p><strong>Introduction/aims: </strong>Expanded access protocols (EAPs) allow individuals ineligible for clinical trials to receive investigational products. EAP data can be collected in parallel to randomized clinical trials (RCTs) and serve as a source of evidence in clinical practice. Here, we present the results of a National Institutes of Health (NIH)-funded EAP for amyotrophic lateral sclerosis (ALS).</p><p><strong>Methods: </strong>Participants received trehalose, a drug studied in a parallel RCT, for up to 24 weeks; clinical and biomarker data were collected throughout the study.</p><p><strong>Results: </strong>Seventy participants were enrolled at 20 study centers across the United States. Treatment with trehalose did not affect the levels of neurofilament light chain [estimated flat slope per month was -0.005, SE = 0.0078; 95% CI (-0.021, 0.011)] or disease progression [estimated least square mean change of the ALS Functional Rating Scale-Revised total score and slow vital capacity (percent predicted) from baseline to Week 24 were -5.6 (0.67); 95% CI (-7.0, -4.3) and -4.53 (4.308); 95% CI (-13.55, 4.48)], respectively. No unexpected treatment-related risks were identified. Serious adverse events were deemed not related to trehalose (20 occurrences in 13 [18.6%] participants with eight deaths).</p><p><strong>Discussion: </strong>This EAP establishes a framework for implementing multi-center EAPs that complement data collected from RCTs. Additional NIH-funded EAPs are currently underway. Data and additional serum samples collected in this study are available to the research community for further study.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov: NCT05597436.</p>","PeriodicalId":18968,"journal":{"name":"Muscle & Nerve","volume":" ","pages":"1108-1116"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12428506/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}