Neurology and Therapy最新文献

{"title":"Efficacy of Stiripentol Beyond Dravet Syndrome: A Retrospective Medical Record Review of Patients with Drug-Resistant Epilepsies.","authors":"Víctor Soto-Insuga, Elena González-Alguacil, María Ballarà-Petitbò, Nuria Lamagrande-Casanova, Anna Duat-Rodríguez, Cristina Benítez-Provedo, Elena Cardenal-Muñoz, Juan José García-Peñas","doi":"10.1007/s40120-025-00755-5","DOIUrl":"10.1007/s40120-025-00755-5","url":null,"abstract":"<p><strong>Introduction: </strong>Stiripentol is approved as an add-on therapy with clobazam and/or valproate for seizures associated with Dravet syndrome (DS). Evidence of stiripentol efficacy in other drug-resistant epilepsies is limited.</p><p><strong>Methods: </strong>This was a single-centre, retrospective, observational study of patients aged ≤ 15 years with non-Dravet epilepsy or DS who initiated stiripentol treatment in Spain.</p><p><strong>Results: </strong>The study included 18 patients with DS and 17 with non-Dravet epilepsy; 76.5% of the latter had a developmental and epileptic encephalopathy. Median (range) age at stiripentol initiation was 52 (4-180) months. Three months of add-on stiripentol provided overall improvement in seizures (number, duration and/or intensity) for 76.5% of the non-Dravet and 61.1% of the DS patients (p = 0.30), all of whom were drug-resistant to prior antiseizure medications (ASMs). Stiripentol reduced seizure frequency by ≥ 50% in 58.8% of the non-Dravet patients and 44.4% of the DS cohort (p = 0.40); 20% of all patients became seizure-free. Stiripentol reduced all seizure types in both cohorts. Kaplan-Meier survival analysis found a higher probability of sustained stiripentol efficacy in the DS cohort (120 months) than the non-Dravet cohort (16 months; p = 0.012). Stiripentol improved cognition and Clinical Global Impression scale scores in approximately 60% of all patients; sleep improved for 19.2%. Acute stiripentol treatment (maximum dose 6.7-100 mg/kg/day) initiated in five patients (four with non-Dravet epilepsy and one with DS) during refractory status epilepticus (SE) successfully resolved SE over a median 0.5 days. Adverse events, mainly mild-to-moderate, occurred in 47.1% and 41.2% of patients in the non-Dravet and DS cohorts, respectively. Six patients (35.3%) with non-Dravet epilepsy discontinued ≥ 1 other ASMs after stiripentol initiation.</p><p><strong>Conclusion: </strong>Add-on stiripentol provides overall improvement in different seizure types and non-seizure manifestations for paediatric patients with drug-resistant epilepsy, including epileptic syndromes besides DS, and appeared effective in acute treatment of SE. Stiripentol was generally well tolerated.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1129-1150"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002911","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":"High-Dose Steroids, Treatment Escalation, and Healthcare Burden in Myasthenia Gravis: A US Claims-Based Cohort Study.","authors":"Mar Pujades-Rodríguez, Adam Jedrzejczyk, Jiachen Zhou, Olga Pilipczuk, Thaïs Tarancón","doi":"10.1007/s40120-025-00714-0","DOIUrl":"10.1007/s40120-025-00714-0","url":null,"abstract":"<p><strong>Introduction: </strong>Myasthenia gravis (MG) is a rare neuromuscular autoimmune disease, characterized by chronic, fluctuating muscle weakness and fatigability. Despite established therapies, many patients have inadequately controlled MG. We describe treatment escalation patterns and outcomes for patients with MG between 2010 and 2018.</p><p><strong>Methods: </strong>We conducted a retrospective cohort analysis of medical and pharmacy claims data. Patients aged ≥ 18 years at MG diagnosis were included from two US Merative™ MarketScan^® databases. MG treatment escalation was defined as an increase of the administered prednisolone-equivalent corticosteroid dose, use of add-on treatments, or treatment switches.</p><p><strong>Results: </strong>The cohort included 4925 adults with newly diagnosed MG (1102 aged 18-49 and 3823 aged ≥ 50 at first MG diagnosis) from January 1, 2010 to December 31, 2018. Median follow-up was 30.0 months (18-49 group) and 27.5 months (≥ 50 group). Overall, 71.5% (3521/4925) of patients had ≥ 1 MG treatment escalation; escalation with high-dose corticosteroids was the most common type (64.8% [18-49 group] and 58.5% [≥ 50 group]). In the first year post-diagnosis, median (range) maximal daily prednisolone-equivalent corticosteroid dose was 40.0 (20.0-75.0) mg/day (18-49 group) and 40.0 (20.0-70.0) mg/day (≥ 50 group). Treatment breaks and de-escalation led to rescue treatment or treatment re-escalation in most patients. Exacerbations occurred in 26.3% (n = 290; 18-49 group) and 21.6% (n = 825; ≥ 50 group). Healthcare resource utilization (HCRU) and costs were highest in Year 1, with mean MG-related costs per patient between $24,982 (≥ 50 group) and $33,023 (18-49 group).</p><p><strong>Conclusion: </strong>The study findings highlight that MG is inadequately controlled in a substantial proportion of patients despite conventional treatment and high reliance on corticosteroids. Earlier treatment with targeted therapies and improved safety profiles may reduce patient burden, HCRU, and costs.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1061-1082"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014812","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":"CILO-CLOP Trial: Cilostazol Versus Clopidogrel in Acute Moderate and Moderate-to-Severe Ischemic Stroke: A Randomized Controlled Multicenter Trial.","authors":"Mohamed G Zeinhom, Mohamed Ismaiel, Mohamed Fouad Elsayed Khalil, Mohamed Ahmed Almoataz, Tarek Youssif Omar, Ahmed Mohamed Ali Daabis, Hossam Mohamed Refat, Ahmed Ahmed Mohamed Kamal Ebied, Noha Abdelwahed, Ahmed Zaki Omar Akl, Emad Labib Abdelhamid Mahmoud, Salah Ibrahim Ahmed, Sherihan Rezk Ahmed","doi":"10.1007/s40120-025-00739-5","DOIUrl":"10.1007/s40120-025-00739-5","url":null,"abstract":"<p><strong>Introduction: </strong>All large studies evaluating the role of cilostazol versus other antiplatelet agents in stroke prevention have been conducted in Asia and included patients with minor stroke or transient ischemic attack (TIA). Ours is the first-ever trial to evaluate the safety and efficacy of cilostazol versus clopidogrel in moderate and moderate-to-severe ischemic stroke in North Africa. Accordingly, in this study we assess the role of cilostazol as an alternative to clopidogrel in Egyptian patients with first-ever non-cardioembolic moderate or moderate-to-severe ischemic stroke.</p><p><strong>Methods: </strong>A total of 870 patients with moderate and moderate-to-severe acute ischemic stroke (AIS) were randomly assigned to administration of loading and maintenance doses of cilostazol or clopidogrel.</p><p><strong>Results: </strong>Of the 870 patients included in our trial, 37 (8.7%) in the cilostazol arm and 59 (13.6%) in the clopidogrel arm experienced a new stroke (HR 0.53; 95% CI, 0.33-0.84; P = 0.007). Twelve participants (2.8%) in the cilostazol group and 25 patients (5.7%) in the clopidogrel group experienced drug-related hemorrhagic complications (HR 0.25; 95% CI, 0.12-0.53; P = 0.001). Patients with hypertension who received cilostazol had significantly lower rates of recurrent hemorrhagic and ischemic stroke.</p><p><strong>Conclusion: </strong>Egyptian patients with non-cardioembolic moderate and moderate-to-severe ischemic stroke who received cilostazol within the first 24 h of symptoms had significantly lower rates of hemorrhagic transformation of brain infarction and peripheral hemorrhagic complications than those who received clopidogrel. Patients with hypertension achieved the greatest benefit from cilostazol, as they experienced a significant reduction in recurrent ischemic and hemorrhagic infarction. There were no significant differences between the two groups regarding the modified Rankin scale (mRS) score after 3 months or in the non-hemorrhagic side effects. Our results were derived from a single-blinded study; a more extensive, double-blinded, multinational study is needed for the results to be generalizable worldwide.</p><p><strong>Trial registration: </strong>Retrospectively registered, ClinicalTrials.gov, NCT06242132, 27-01-2024.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"927-948"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021987","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":"Adjunctive Brivaracetam in People with Epilepsy and Intellectual Disability: Evidence from the BRIVAracetam Add-On First Italian netwoRk Study.","authors":"Simona Lattanzi, Laura Canafoglia, Maria Paola Canevini, Sara Casciato, Emanuele Cerulli Irelli, Valentina Chiesa, Filippo Dainese, Giovanni De Maria, Giuseppe Didato, Giancarlo Di Gennaro, Giovanni Falcicchio, Martina Fanella, Edoardo Ferlazzo, Massimo Gangitano, Angela La Neve, Oriano Mecarelli, Elisa Montalenti, Alessandra Morano, Federico Piazza, Chiara Pizzanelli, Patrizia Pulitano, Federica Ranzato, Eleonora Rosati, Laura Tassi, Carlo Di Bonaventura","doi":"10.1007/s40120-025-00717-x","DOIUrl":"10.1007/s40120-025-00717-x","url":null,"abstract":"<p><strong>Introduction: </strong>Subjects with intellectual disability are usually excluded from clinical trials and there is limited evidence-based guidance for the choice of antiseizure medications in this vulnerable population. The study explored the effectiveness of brivaracetam (BRV) in people with epilepsy and intellectual disability.</p><p><strong>Methods: </strong>BRIVAracetam add-on First Italian netwoRk Study (BRIVAFIRST) was a 12-month retrospective, multicenter study including adults prescribed adjunctive BRV. Main outcomes included the rates of seizure-freedom, seizure response (≥ 50% reduction in baseline seizure frequency), and treatment discontinuation. The occurrence of adverse events (AEs) was also considered. Analyses by the presence and severity of intellectual disability were performed.</p><p><strong>Results: </strong>Subjects with intellectual disability were 253 (24.6%) out of 1029 participants. The 12-month rates of seizure freedom were 18.4% and 10.3% in participants without and with intellectual disability, respectively; the corresponding values for seizure response were 40.0% and 28.9%. Intellectual disability was not an independent predictor of seizure outcomes. The rates of treatment discontinuation were 25.8% and 26.4% in participants without and with intellectual disability. respectively. There were no statistically significant differences in the rates of any AEs, somnolence, nervousness/agitation, and aggressiveness by the presence and degree of intellectual disability.</p><p><strong>Conclusion: </strong>Brivaracetam can be a suitable treatment option and offer opportunities for clinical improvement in subjects with intellectual disability and uncontrolled seizures.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"775-786"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605740","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":"Anemia Increases All-Cause Mortality Risk in Stroke Survivors on Antiplatelet Therapy: A Retrospective Cohort Study.","authors":"Tieshi Zhu, Yong He, Yuzhang Bei, Hui Mai","doi":"10.1007/s40120-025-00735-9","DOIUrl":"10.1007/s40120-025-00735-9","url":null,"abstract":"<p><strong>Introduction: </strong>Approximately 20% of patients with stroke are anemic, and previous studies have identified a U-shaped relationship between hemoglobin levels and all-cause mortality in stroke survivors. However, these studies have not specifically focused on patients with stroke taking antiplatelet agents. This study investigates the impact of anemia and hemoglobin (HGB) on mortality in this population.</p><p><strong>Methods: </strong>This study included 356 stroke survivors from the National Health and Nutrition Examination Survey 1999-2018 who were taking antiplatelet agents. It analyzed the impact of HGB levels and anemia on all-cause mortality using Cox regression, examined the nonlinear relationship between HGB and mortality through restricted cubic splines (RCS), and illustrated survival over time using Kaplan-Meier survival curves.</p><p><strong>Results: </strong>RCS analysis revealed no nonlinear relationship between HGB and all-cause mortality (P for overall < 0.01, P for nonlinear = 0.36), with lower HGB levels associated with an increased risk of all-cause mortality. Cox regression analysis showed that HGB was negatively associated with mortality risk across all models (Model 4: hazard ratio = 0.81, 95% confidence intervals 0.73-0.91, P < 0.01). Additionally, anemia significantly increased the risk of mortality in all models (Model 4: hazard ratio = 2.05, 95% confidence intervals 1.43-2.95, P < 0.01). Kaplan-Meier survival curves demonstrated that the survival rate in the anemic group was significantly lower than that of the non-anemic group (P < 0.01).</p><p><strong>Conclusion: </strong>In stroke survivors taking antiplatelet agents, anemia is associated with an increased risk of all-cause mortality, while HGB levels are negatively correlated with mortality risk.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"965-975"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028695","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":"Effect of Anodal Transcranial Direct Current Stimulation on the Intensity of Post-dural Puncture Headache: Results of Two Randomized Sham Controlled Trials.","authors":"Bledar Gjikolaj, Mario Stampanoni Bassi, Antonio Bruno, Valeria De Ioanni, Ettore Dolcetti, Sheila Peter, Giovanni Galifi, Antonella Conte, Luana Gilio, Diego Centonze, Fabio Buttari","doi":"10.1007/s40120-025-00734-w","DOIUrl":"10.1007/s40120-025-00734-w","url":null,"abstract":"<p><strong>Introduction: </strong>Post-dural puncture headache (PDPH) is a common complication of diagnostic lumbar puncture (LP), often leading to extended hospitalization and additional medication use. Clinical studies have shown that anodal transcranial direct current stimulation (a-tDCS) is effective against migraine, and thus we decided to assess whether a-tDCS was also effective in treating and preventing PDPH.</p><p><strong>Methods: </strong>In two independent, randomized, monocentric controlled trials (RCTs), we enrolled 97 hospitalized participants who underwent LP for diagnostic purposes. Patients were randomized to receive either active a-tDCS or sham tDCS over the dominant primary motor cortex (M1) in a therapeutic tDCS (Th-tDCS) or preventive tDCS (Pr-tDCS) study. In the two trials, the primary outcome was the severity of PDPH measured using the Visual Analogue Scale (VAS) for pain. Secondary outcomes included the Brief Pain Inventory (BPI) to evaluate other pain-related symptoms associated with LP.</p><p><strong>Results: </strong>In the Th-tDCS study, significant differences between groups were observed after tDCS in the VAS (F = 17.011, p < 0.001), as well as in BPI intensity (F = 17.006, p < 0.001) and BPI interference (F = 14.730, p < 0.001). Moreover, in the Pr-tDCS study, VAS analysis showed a significant time × group interaction (F = 6.918, p = 0.002). Significant differences were also observed in BPI intensity (F = 17.866, p < 0.001) and BPI interference (F = 15.520, p < 0.001).</p><p><strong>Conclusions: </strong>Our findings suggest that a-tDCS may effectively prevent and treat PDPH and alleviate other pain-related symptoms associated with LP. Encouraging results have emerged for the use of a-tDCS in patients undergoing LP, in both experimental research designs (Th-tDCS and Pr-tDCS). A non-invasive brain stimulation (NIBS) technique, such as a-tDCS, could have a therapeutic and preventive effect on pain resulting from a LP.</p><p><strong>Trial registration: </strong>ClinicalTrials.gov (ID: NCT06640634) retrospectively registered on October 8, 2024.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"989-1006"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028610","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":"Patient Experience of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Qualitative Exploration of Signs, Symptoms, and Health-Related Quality of Life Impacts.","authors":"Anna Roberts, Natasha Griffiths, Kieran Thiara, Sophie Wallace, Alyson L Young, Nicola Williamson, Adam Gater, Omar Saeed, Charles Minor, Natalia Hawken","doi":"10.1007/s40120-025-00732-y","DOIUrl":"10.1007/s40120-025-00732-y","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare type of autoimmune neuropathy, characterized by signs of distal and proximal weakness of the upper and lower limbs, sensory dysfunction, absent or diminished tendon reflexes, and symptoms of numbness, tingling, pain, and fatigue. These signs/symptoms can lead to difficulty walking, climbing stairs, and reduced manual dexterity. Detailed qualitative exploration of the patient experience of CIDP, notably signs/symptoms, its impacts on health-related quality of life, and treatment experience is limited. Qualitative patient experience data is recommended by regulatory bodies to inform patient-focused drug development. This study aimed to qualitatively explore the experience of CIDP from the patient and clinician perspectives.</p><p><strong>Methods: </strong>Qualitative concept elicitation telephone interviews were conducted with adult patients with a confirmed diagnosis of CIDP and with neurologists experienced in diagnosing and treating patients with CIDP from the USA. Interview transcripts were analyzed using thematic analysis methods, and findings informed development of a conceptual model.</p><p><strong>Results: </strong>Overall, 15 patients with CIDP and 10 neurologists were interviewed. A total of 19 signs/symptoms were identified as important and relevant, of which weakness, fatigue, loss of balance, tingling, numbness, pain, and loss of coordination were most frequently reported by patients and neurologists. Except for loss of coordination, these signs/symptoms were also considered most salient to patients. Patients identified fatigue as the most bothersome symptom and weakness and fatigue as the most important to treat. CIDP impacted health-related quality-of-life (HRQoL), including physical functioning (e.g., walking difficulties), activities of daily living (e.g., difficulty with personal care), work (e.g., being unable to work), emotional wellbeing (e.g., depression), social wellbeing (e.g., participation in social/leisure activities), sleep (e.g., difficulty falling asleep), and cognition (e.g., brain fog). Patients reported that current CIDP treatments lacked effectiveness in treating specific symptoms, caused unwanted side effects, and impacted their independence.</p><p><strong>Conclusions: </strong>Findings contribute novel and detailed qualitative insights into the key signs/symptoms of CIDP and the profound impact of these on patients' HRQoL from both the patient and clinician perspectives. Findings can be used to identify treatment targets and support selection of appropriate clinical outcome assessments for the evaluation of CIDP symptoms and HRQoL impacts in future CIDP clinical trials.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1039-1059"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036856","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":"SMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA.","authors":"Ilse S Peterson, Ramaa Chitale, Mary A Curry, Lisa T Belter","doi":"10.1007/s40120-025-00753-7","DOIUrl":"10.1007/s40120-025-00753-7","url":null,"abstract":"<p><strong>Introduction: </strong>Despite advances in the therapeutic landscape for spinal muscular atrophy (SMA), unmet needs for those with this condition persist. This study seeks to characterize unmet needs that adults with SMA hope future therapies will address and explores associations between reported needs and health status and demographic characteristics.</p><p><strong>Methods: </strong>Close-ended questions from 2021 to 2023 Cure SMA Community Update Survey data were used to assess the importance of needs related to muscle and motor function, lung function and bulbar function, and general functioning. Data was stratified by SMA type and mobility status, and Fisher's exact tests were used to assess for statistically significant differences based on these characteristics. Variations in reported needs were further explored with regressions controlling for sex, education, maximum mobility, and drug treatment status.</p><p><strong>Results: </strong>The sample included 410 adults who answered questions on unmet needs. Most had type 2 or type 3 SMA (48% and 45%, respectively). Gaining muscle strength was the most frequently reported unmet need, and followed by improving daily functioning, achieving new motor function, and stabilizing motor function. Stratifications and regressions identified statistically significant differences in treatment needs based on health status and demographic characteristics (p < 0.05). Most notably, people with more severe types of SMA and lower mobility were more likely to report items related to lung function and bulbar function as important.</p><p><strong>Conclusion: </strong>This research highlights treatment priorities for adults with SMA.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1083-1092"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064299","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":"Safety Monitoring of Omaveloxolone in Friedreich Ataxia: Results from One Year of Clinical Treatment.","authors":"Katherine Gunther, Victoria Profeta, Medina Keita, Courtney Park, McKenzie Wells, Sonal Sharma, Kimberly Schadt, David R Lynch","doi":"10.1007/s40120-025-00749-3","DOIUrl":"10.1007/s40120-025-00749-3","url":null,"abstract":"<p><strong>Introduction: </strong>Omaveloxolone, the only approved medication for Friedreich ataxia (FRDA), is an NRF2 activator available since July 2023. We examined safety monitoring of omaveloxolone administration over the first 12 months of administration.</p><p><strong>Methods: </strong>We recorded baseline and follow-up serum transaminase, albumin, total bilirubin, cholesterol, and brain natriuretic peptide (BNP) values as well as adverse events over 1 year in patients initiating commercial omaveloxolone therapy.</p><p><strong>Results: </strong>Access to omaveloxolone was obtained in 236 of individuals for whom it was prescribed. Side effects were noted in 23.8% of patient with the most common being gastrointestinal upset, headache, and fatigue baseline. Twenty-one patients (8.9%) permanently discontinued the drug during the first year. Over the first year, 56.6% of patients had at least one transaminase value above the upper limit of normal at some point. Elevations largely occurred over the first 3 months of therapy, and after 6 months of dosing, only 8.6% of patients had elevations in transaminases. Elevations were generally < 3 × the upper limit of normal and decreased with temporary pausing of the drug or dose reduction. Few changes were noted in albumin or bilirubin, and such changes did not parallel changes in transaminases, suggesting they are independent events. BNP values were generally unchanged throughout the year, and no systematic changes in blood counts were noted. Cholesterol and low-density lipoprotein (LDL) elevations were mild.</p><p><strong>Conclusions: </strong>Most patients with FRDA eventually had access to omaveloxolone, and it was generally well tolerated. Side effects were modest, and, overall, most patients remained on the drug. Abnormalities in serum liver function tests were limited to transaminases, resolved with dose pausing or reduction, and diminished markedly over time. Thus, the safety features of omaveloxolone after administration largely resemble the favorable features noted during clinical trials.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"1105-1114"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991266","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":"Real-World Experience with FcRn Inhibitors Efgartigimod and Rozanolixizumab in Myasthenia Gravis: Administration in Multiple Cycles and Transition from Intravenous to Subcutaneous Formulation.","authors":"Masaaki Yoshikawa, Yukako Inoue, Koya Tanaka, Keisuke Tsumura, Yuki Hoshino, Chika Shichijo, Toshihiro Ide, Kohei Suzuyama, Megumi Iwasaki, Makoto Eriguchi, Motohiro Yukitake, Hiroshi Takashima, Haruki Koike","doi":"10.1007/s40120-025-00748-4","DOIUrl":"10.1007/s40120-025-00748-4","url":null,"abstract":"<p><strong>Introduction: </strong>The neonatal Fc receptor (FcRn) inhibitors efgartigimod and rozanolixizumab have not long been introduced for treating generalized myasthenia gravis (MG); hence, real-world evidence for their administration in multiple cycles and switching from intravenous to subcutaneous formulation remains insufficient.</p><p><strong>Methods: </strong>We retrospectively assessed 17 consecutive patients with generalized MG and diverse backgrounds who were treated with FcRn inhibitors.</p><p><strong>Results: </strong>All patients initially received an intravenous efgartigimod formulation. Of 17 patients, 10 (59%) were considered responders, defined as a persistent improvement of at least two points for a minimum of four consecutive weeks in the MG activities of daily living score during the first treatment cycle. Four of the non-responders in the first cycle demonstrated an improvement in fulfilling the criteria for responders in the second cycle. One of these patients, who had thymoma metastatic lesions, experienced a significant worsening of MG symptoms during the first treatment cycle. Five patients switched from intravenous to subcutaneous formulations, which was successful in all patients. The efficacy of the subcutaneous formulations was similar to that of the intravenous formulation, even in patients who switched from efgartigimod to rozanolixizumab. The drugs were well tolerated without any drug-related serious adverse events irrespective of the formulation type.</p><p><strong>Conclusion: </strong>FcRn inhibitors were effective and safe in patients with generalized MG, but their efficacy may depend on the disease activity during treatment. The transition from the intravenous formulation to more convenient subcutaneous formulations was successful, indicating the likely growth of future demand for subcutaneous formulations.</p>","PeriodicalId":19216,"journal":{"name":"Neurology and Therapy","volume":" ","pages":"977-988"},"PeriodicalIF":3.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12089629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036859","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}