{"title":"We need to engage representative patients' community rather than 'expert patients' to increase impact of research in the era of personalized medicine: Commentary.","authors":"Paola Zaratin","doi":"10.1177/13524585251315364","DOIUrl":"10.1177/13524585251315364","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"396-397"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11956384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ann-Christine Mitrache Desaga, Yassine Noui, Thomas Silfverberg, Kristina Carlson, Joachim Burman
{"title":"Patient-reported outcomes of quality of life before and after autologous hematopoietic stem cell transplantation for multiple sclerosis.","authors":"Ann-Christine Mitrache Desaga, Yassine Noui, Thomas Silfverberg, Kristina Carlson, Joachim Burman","doi":"10.1177/13524585251315363","DOIUrl":"10.1177/13524585251315363","url":null,"abstract":"<p><strong>Background: </strong>Autologous hematopoietic stem cell transplantation (AHSCT) is a therapeutic intervention for multiple sclerosis (MS) that has gained increased attention in the last decade. The impact of this intervention on the quality of life (QoL) of patients with MS remains unclear.</p><p><strong>Objective: </strong>The aim of this study was to investigate the impact of AHSCT on QoL in patients with MS using Multiple Sclerosis Impact Scale (MSIS-29) scores.</p><p><strong>Methods: </strong>In this observational retrospective cohort study, patients with relapsing-remitting MS treated with AHSCT in Sweden from 2004, when the first transplant was performed, until 31 December 2019, were considered for participation. Anonymized outcome data were extracted from the Swedish MS registry in May 2022.</p><p><strong>Results: </strong>Out of 213 patients assessed for eligibility in the study, 96 were included in the final analysis. After a median follow-up of 5.2 (IQR 3.2-6.8) years, 58% improved, 14% remained unchanged and 28% worsened in the physical domain of the MSIS-29. In the psychological domain, 63% improved, 18% remained unchanged and 19% worsened. Improvements in both domains occurred early, within the first year following intervention.</p><p><strong>Conclusions: </strong>Treatment intervention with AHSCT is associated with a clinically meaningful improvement in QoL.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"455-463"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11956378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rezvan Noroozi, Hui-Hsin Tsai, Ketian Yu, Paola Bronson, Karunakar Samuel, Kien Trinh, Ru Wei, Ellen Tsai, Farren Bs Briggs, Pavan Bhargava, Kathryn C Fitzgerald
{"title":"Metabolic and lipid alterations in multiple sclerosis linked to disease severity.","authors":"Rezvan Noroozi, Hui-Hsin Tsai, Ketian Yu, Paola Bronson, Karunakar Samuel, Kien Trinh, Ru Wei, Ellen Tsai, Farren Bs Briggs, Pavan Bhargava, Kathryn C Fitzgerald","doi":"10.1177/13524585251325468","DOIUrl":"10.1177/13524585251325468","url":null,"abstract":"<p><strong>Background: </strong>The circulating metabolome incorporates multiple levels of biological interactions and is an emerging field for biomarker discovery. However, few studies have linked metabolite levels with quantitative neurologic function assessments in people with multiple sclerosis (pwMS).</p><p><strong>Objectives: </strong>We quantified metabolomic differences between pwMS and healthy controls (HCs) and assessed the association of metabolites with disease severity.</p><p><strong>Methods: </strong>We profiled 517 metabolites using liquid chromatography-mass spectrometry (Biocrates Inc.) for participants from the MS Partners Advancing Technology and Health Solutions (MS PATHS). We conducted a multicenter cross-sectional study and applied linear regression to assess the association between metabolites and neurological function measures in multiple sclerosis (MS), including walking speed, manual dexterity, and processing speed.</p><p><strong>Results: </strong>Among 1010 participants (837 MS; 71.2% relapsing-remitting MS; 173 HC; mean age: 44.5 (standard deviation (SD): 11.4); 73.9% female; 12.7% non-white), pwMS showed decreased levels of phosphatidylcholines (PCs) and different amino acids (AAs) but increased triglycerides (TGs). Metabolites showed an association with worse neurologic function; for instance, a 1-SD decrease in <i>PC aa C36:6</i> was associated with 21.36% (95% confidence interval (CI): 11.07-30.46; <i>p</i> = 1.35E-04) slower walking speed.</p><p><strong>Conclusions: </strong>This large study identified lipid alterations linked to MS severity. Future longitudinal studies will evaluate if these metabolite levels predict MS outcomes.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"433-443"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cecilia Smith Simonsen, Heidi Øyen Flemmen, Line Broch, Kamilla Brekke, Harald Myklebust, Pål Berg-Hansen, Cathrine Brunborg, Elisabeth Gulowsen Celius
{"title":"Reduced childbirth rates in multiple sclerosis from the prodromal phase: Evidence from a population-based cohort study.","authors":"Cecilia Smith Simonsen, Heidi Øyen Flemmen, Line Broch, Kamilla Brekke, Harald Myklebust, Pål Berg-Hansen, Cathrine Brunborg, Elisabeth Gulowsen Celius","doi":"10.1177/13524585251315077","DOIUrl":"10.1177/13524585251315077","url":null,"abstract":"<p><strong>Background: </strong>The age of multiple sclerosis (MS) onset coincides with fertile age, and both improved prognosis and treatment may influence birth rates in people with MS (pwMS).</p><p><strong>Objectives: </strong>To investigate birth rates over time in pwMS compared with controls.</p><p><strong>Methods: </strong>This cohort study included pwMS from three hospitals in the southeast of Norway. Clinical data were collected prospectively. Statistics Norway provided year of live births and marital status in pwMS and controls matched for age, sex, and place of residence at age 16.</p><p><strong>Results: </strong>We included 1599 pwMS (1118 women with MS (wMS) and 481 men with MS (mMS)) and 23,855 controls. The mean number of live births was 1.5 (standard deviation (SD) 1.2) for pwMS versus 1.8 (SD 1.2) for controls (<i>p</i> < 0.001). Birth rates in wMS declined significantly starting 3 years before onset, with 4.5% giving birth versus 8.4% of controls 2 years before onset (<i>p</i> = 0.046). Birth rates were also lower 1 year after onset (<i>p</i> = 0.002). mMS showed a dip 2 years before onset (<i>p</i> = 0.002), but otherwise had rates similar to controls. There were no differences in marital status.</p><p><strong>Conclusion: </strong>wMS have reduced rates of childbirth compared with controls. This is significant already in the prodromal phase.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"398-407"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11956373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emma C Tallantyre, Emily Jacob, Laura Davies, Samantha Loveless, Emily Carne, Kath Bramhall, Janika Schulze, Stuart J Moat, Stephen Jolles
{"title":"Home-sampling of B cells using quantitative dried blood spots to enable tailored therapeutic re-dosing of anti-CD20 therapies.","authors":"Emma C Tallantyre, Emily Jacob, Laura Davies, Samantha Loveless, Emily Carne, Kath Bramhall, Janika Schulze, Stuart J Moat, Stephen Jolles","doi":"10.1177/13524585251330962","DOIUrl":"10.1177/13524585251330962","url":null,"abstract":"<p><p>Anti-CD20 monoclonal antibodies are commonly used to manage neuroinflammatory diseases. The rate of B-cell re-emergence after dosing of ocrelizumab or rituximab varies considerably between individuals, but most people remain completely B-cell depleted at 6 months. Tailoring the dosing according to B-cell re-emergence may improve the safety profile of anti-CD20s but poses logistical challenges such as the need for regular attendances for whole-blood sampling. Here we combined a quantitative dried blood spot sampling technique with a DNA methylation test, to provide a reliable means of remotely monitoring B-cell counts, with 100% sensitivity and specificity for reaching >10 × 10<sup>6</sup> cells/L.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"13524585251330962"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giulia Mallucci, Andrea Zimmer, Nikolaos Sfikas, Nuria Cerdá-Fuertes, Simon Wunderlin, Ioanna Athanasopoulou, Magdalena Mroczek, Vanny Phavanh, Lisa Sanak, Jolanda Suter, Bernadette Friedli, Jakob Kel, Thomas Trouillet, Sarah Simmen, Alex Ocampo, Wenjia Wei, Bernd Kieseier, Christian P Kamm, Ludwig Kappos, Marcus D'Souza
{"title":"Neurostatus-SMARTCARE clinical trial: Enabling health care professionals to assess EDSS for decentralized trials in multiple sclerosis.","authors":"Giulia Mallucci, Andrea Zimmer, Nikolaos Sfikas, Nuria Cerdá-Fuertes, Simon Wunderlin, Ioanna Athanasopoulou, Magdalena Mroczek, Vanny Phavanh, Lisa Sanak, Jolanda Suter, Bernadette Friedli, Jakob Kel, Thomas Trouillet, Sarah Simmen, Alex Ocampo, Wenjia Wei, Bernd Kieseier, Christian P Kamm, Ludwig Kappos, Marcus D'Souza","doi":"10.1177/13524585241305966","DOIUrl":"10.1177/13524585241305966","url":null,"abstract":"<p><strong>Background: </strong>Neurostatus-Expanded Disability Status Scale (EDSS) is the standard measure used to assess impairment and disability in multiple sclerosis (MS) trials but requires trained expert neurologists.</p><p><strong>Objectives: </strong>This study aims to evaluate the concordance of Neurostatus-EDSS assessments from specially trained health care professionals (HCPs) and standardized trained neurologists.</p><p><strong>Methods: </strong>A Swiss multicenter, randomized, cross-over study with 100 people with MS. HCPs were trained to assess the Neurostatus-EDSS based on the newly developed SMARTCARE-EDSS training method.</p><p><strong>Results: </strong>The concordance rate between HCPs and neurologists was 0.87 (95% confidence interval (CI) = 0.815-0.925).</p><p><strong>Conclusion: </strong>Trained HCPs can reliably perform Neurostatus-EDSS assessments, supporting broader implementation and improved trial access.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"497-501"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11956382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"We need to engage representative patients' community rather than 'expert patients' to increase impact of research in the era of personalised medicine: Yes.","authors":"Usman Khan","doi":"10.1177/13524585251315338","DOIUrl":"10.1177/13524585251315338","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"392-393"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143391335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adolfo Del Canto, Claudia Cárcamo, Lorena Garcia, Ester Aylwin, Lukas Jürgensen-Heinrich, Ignacio Guzman-Carcamo, Juan de la Barra, Leticia Gutierrez-Calquin, Antonia Barrera-Hormazabal, Juan Pablo Cruz, Sebastián Bravo, Carolina Pelayo, Bernardita Soler, Reinaldo Uribe-San-Martin, Ethel Ciampi
{"title":"Real-world evidence of ocrelizumab in Chilean patients with multiple sclerosis.","authors":"Adolfo Del Canto, Claudia Cárcamo, Lorena Garcia, Ester Aylwin, Lukas Jürgensen-Heinrich, Ignacio Guzman-Carcamo, Juan de la Barra, Leticia Gutierrez-Calquin, Antonia Barrera-Hormazabal, Juan Pablo Cruz, Sebastián Bravo, Carolina Pelayo, Bernardita Soler, Reinaldo Uribe-San-Martin, Ethel Ciampi","doi":"10.1177/13524585241309835","DOIUrl":"10.1177/13524585241309835","url":null,"abstract":"<p><strong>Background: </strong>Real-world studies are needed to expand our knowledge concerning populations underrepresented in clinical trials.</p><p><strong>Objective: </strong>This study aimed to evaluate the safety and effectiveness of ocrelizumab in Hispanic/Latino people with multiple sclerosis (pwMS).</p><p><strong>Methods: </strong>Prospective longitudinal observational study including pwMS who received at least one dose of ocrelizumab between June 2018 and October 2023.</p><p><strong>Results: </strong>A total of 305 pwMS (223 relapsing-remitting MS (RRMS), 29 secondary progressive MS (SPMS), and 53 primary progressive MS (PPMS)), 67% female, mean age 38.7, mean disease duration 7 years, and median Expanded Disability Status Scale (EDSS) 2.0 (range 0-7). Median follow-up under ocrelizumab 29.5 (range 6-65) months. Only 1 patient had a relapse, 12-week-confirmed disability worsening was observed in 12.4% of the full cohort. Survival analysis showed higher risk of 12-week-confirmed disability worsening in SPMS compared with RRMS and PPMS (<i>p</i> = 0.0009). Magnetic resonance imaging (MRI) activity was significantly reduced from baseline across all disease phenotypes. Serious infections were observed in 4.6%, and two patients died during follow-up (one serious COVID-19 and one metastatic cancer). Notably, 22 pregnancies were reported, with 11 newborns and 6 pregnancies still on course.</p><p><strong>Conclusion: </strong>This study supports the effectiveness of ocrelizumab in a real-world cohort of individuals from traditionally underrepresented groups, such as the Latin American population, with a consistent safety profile in patients receiving care at a specialized MS Unit.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"444-454"},"PeriodicalIF":4.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Angus Lee, Radostina T Iordanova, Jessica B Smith, Bonnie H Li, Kathryn B Schwarzmann, Samir Alsalek, Talar S Habeshian, Sakar Budhathoki, Viridiana Hernandez-Lopez, Fernando Torres, Annette M Langer-Gould
{"title":"Incidence and prevalence of neuromyelitis optica spectrum disorder in a contemporary, multi-ethnic cohort.","authors":"Angus Lee, Radostina T Iordanova, Jessica B Smith, Bonnie H Li, Kathryn B Schwarzmann, Samir Alsalek, Talar S Habeshian, Sakar Budhathoki, Viridiana Hernandez-Lopez, Fernando Torres, Annette M Langer-Gould","doi":"10.1177/13524585251328554","DOIUrl":"https://doi.org/10.1177/13524585251328554","url":null,"abstract":"<p><strong>Background: </strong>Ecological comparisons suggest that neuromyelitis optic spectrum disorder (NMOSD) is more common in African Caribbean and Asian compared to White people.</p><p><strong>Objective: </strong>The aim is to rigorously assess susceptibility across multiple racial and ethnic groups from the same cohort.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study of > 39 million person-years of observation from members of Kaiser Permanente Southern California. The electronic health records of individuals with at least one International Classification of Diseases (ICD) code for NMOSD were reviewed to identify persons who met 2015 diagnostic criteria for NMOSD.</p><p><strong>Results: </strong>We identified 153 NMOSD cases, 105 incident and 105 prevalent. The age- and sex-standardized incidence (2013-2022) and prevalence (2019) according to the 2020 US Census per 100,000 person-years was significantly higher in Black persons (incidence = 0.90, 95% confidence interval (CI) = 0.59-1.21; prevalence = 8.44, 95% CI = 5.52-11.36) compared to all other racial and ethnic groups. The incidence was similar among Asian/Pacific Islander (0.32, 95% CI = 0.16-0.48) compared to Hispanic people (0.19, 95% CI = 0.13-0.25) and lowest in White people (incidence = 0.13, 95% CI = 0.07-0.19).</p><p><strong>Discussion: </strong>NMOSD susceptibility is highest in Black people, followed by Asian/Pacific Islands, then Hispanic people, and lowest in White people. Studies in diverse groups of minoritized people are needed to determine whether this increased susceptibility is due to shared genetic ancestry, the ill-health consequences of racism, or both.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"13524585251328554"},"PeriodicalIF":4.8,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Elle Levit, Inessa Cohen, Amit Mahajan, Adam Ulano, Erin E Longbrake, Andrew J Solomon
{"title":"Evaluation of the relationship between brainstem lesions and apnea hypopnea index in patients with multiple sclerosis.","authors":"Elle Levit, Inessa Cohen, Amit Mahajan, Adam Ulano, Erin E Longbrake, Andrew J Solomon","doi":"10.1177/13524585251327875","DOIUrl":"https://doi.org/10.1177/13524585251327875","url":null,"abstract":"<p><strong>Background: </strong>Obstructive sleep apnea (OSA) may be more prevalent in people with multiple sclerosis (MS) and previous work suggests possible association with demyelinating brainstem lesions.</p><p><strong>Objectives: </strong>The objectives of this study were to assess the relationship between demyelinating brainstem lesions in patients with MS referred for polysomnography (PSG) and the severity of the apnea-hypopnea index (AHI).</p><p><strong>Methods: </strong>A total of 122 people with MS or clinically isolated syndrome (CIS) who underwent PSG due to concern for OSA or hypersomnia at two institutions between 2010 and 2022 were included. AHI was associated with the number of and presence of brainstem demyelinating lesions on magnetic resonance imaging (MRI) obtained within 1 year of PSG after controlling for body mass index (BMI), age, sleep study type, study center, and study year.</p><p><strong>Results: </strong>Having one brainstem lesion was significantly associated with mildly elevated AHI (5 ⩽ AHI < 15; odds ratio (OR) = 2.71, 95% confidence interval (CI) = 1.29-5.67) and two or more lesions was associated with higher odds of mildly elevated AHI (OR = 3.27, 95% CI = 1.83-5.85) and moderately/severely elevated AHI (AHI > 15; OR = 3.23, 95% CI = 1.91-5.47). The presence of brainstem demyelinating lesion(s) conferred a higher odds of mildly elevated AHI (OR = 3.00, 95% CI = 1.75-5.16) and moderately/severely elevated AHI (OR = 1.65, 95% CI = 1.08-2.52).</p><p><strong>Conclusions: </strong>These data suggest that brainstem lesions may be associated with elevated AHI in people with MS.</p>","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":" ","pages":"13524585251327875"},"PeriodicalIF":4.8,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143743403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}