Amyotrophic lateral sclerosis & frontotemporal degeneration最新文献

{"title":"Sex, racial, and ethnic disparities in motor neuron disease: clinical trial enrolment.","authors":"Chia-Chen Tsai, Brendan Tao, Madeleine Wong, Haarini Suntharalingam, Agessandro Abrahao, Carolina Barnett-Tapia","doi":"10.1080/21678421.2024.2358793","DOIUrl":"10.1080/21678421.2024.2358793","url":null,"abstract":"<p><strong>Objective: </strong>Motor neuron disease (MND) is a group of neurological diseases, the majority being amyotrophic lateral sclerosis (ALS), with varying clinical presentations across demographics. Clinical trial enrollment reflecting global disease burden improves understanding of diverse presentations and aids personalized therapy development. We assessed the sex, racial, and ethnic composition of MND/ALS clinical trial participants relative to global disease burdens.</p><p><strong>Methods: </strong>We searched 'motor neuron disease OR amyotrophic lateral sclerosis' on ClinicalTrials.gov from 02/2000-04/2024. We extracted trial (start year, study site, sponsor location, phase, masking, intervention) and demographic data (sex, race, ethnicity) from randomized interventional studies. We obtained sex-based MND/ALS disease burden estimates from the Global Burden of Disease database. For females, we calculated pooled participation-to-prevalence ratio (PPR) with 95% confidence intervals (CIs), with PPR of 0.8-1.2 indicating adequate enrollment. We used Kruskal-Wallis tests to compare demographic groups across trial characteristics.</p><p><strong>Results: </strong>Of 85 trials, females comprised 37.47% (<i>n</i> = 5011) of 13,372 participants; the pooled female PPR was 0.97 (95% CI: 0.77-1.16). Of 41 trials (9340 participants) reporting race, 121 (1.30%) participants were Black or African American, 16 (0.17%) American Indian or Alaskan Native, and 6 (0.06%) Native Hawaiian or Other Pacific Islander. 24 trials (595 participants) reported ethnicity, with a minority of Hispanic participants (<i>n</i> = 153; 2.57%).</p><p><strong>Conclusions: </strong>MND/ALS clinical trials had adequate female enrollment relative to global disease burdens. Race and ethnicity data were underreported. However, there were enrollment disparities of racial and ethnic groups. Increased trial leadership diversity, equitable enrollment policies, and addressing barriers to participation could improve enrollment diversity.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"694-701"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.","authors":"Dean Spencer, James Polke, Joanna Campbell, Henry Houlden, Aleksandar Radunovic","doi":"10.1080/21678421.2024.2370808","DOIUrl":"10.1080/21678421.2024.2370808","url":null,"abstract":"<p><p><i>Background</i>: Despite recognition of the importance of genetic factors in the pathogenesis of MND and the increasing availability of genetic testing, testing practice remains highly variable. With the arrival of gene-targeted therapies there is a growing need to promptly identify actionable genetic results and patient death before receipt of results raises ethical dilemmas and limits access to novel therapies. <i>Objective</i>: To identify pathogenic mutations within a London tertiary MND center and their correlation with family history. To record waiting times for genetic results and deaths prior to receipt of results. <i>Methods</i>: In this series of 100 cases, genetic testing was offered to all patients with an MND diagnosis from the tertiary clinic. Data on demographics, disease progression and a detailed family history were taken. Time to receipt of genetic results and patient deaths prior to this were recorded.  <i>Results</i>: Of the 97 patients who accepted testing a genetic cause was identified in 10%, including seven C9orf72 and two positive SOD1 cases. Only three patients with positive genetic findings had a family history of MND, although alternative neurological diagnoses and symptoms in the family were frequently reported. 14% of patients who underwent testing were deceased by the time results were received, including one actionable SOD1 case.  <i>Conclusions</i>: Genetic testing should be made available to all patients who receive an MND diagnosis as family history alone is inadequate to identify potential familial cases. Time to receipt of results remains a significant issue due to the limited life expectancy following diagnosis.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"737-742"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141461159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Theme 8 Clinical Imaging and Electrophysiology.","authors":"","doi":"10.1080/21678421.2024.2403305","DOIUrl":"https://doi.org/10.1080/21678421.2024.2403305","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":"25 sup1","pages":"218-231"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of <i>VCP</i> mutation.","authors":"Valentina Carlucci, Alessandro Salvalaggio, Pietro Riguzzi, Davide Fasolato, Cinzia Bussè, Diego Cecchin, Annachiara Cagnin","doi":"10.1080/21678421.2024.2370809","DOIUrl":"10.1080/21678421.2024.2370809","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"800-802"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141556076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International network for ALS research and care (INARC).","authors":"Juliette Foucher, Tommy M Bunte, Vanessa Bertone, Romy L Verschoor, Mathias Couillard, Corey Straub, Angela Genge, Caroline Ingre, Leonard H van den Berg","doi":"10.1080/21678421.2024.2362850","DOIUrl":"10.1080/21678421.2024.2362850","url":null,"abstract":"<p><p>The International Network for Amyotrophic Lateral Sclerosis (ALS) Research and Care (INARC) was founded in 2022. INARC's main goals are to offer a platform dedicated to staff members for ALS clinics and research teams who are not physicians. By nurturing experience and expertise exchanges to improve problem solving skills, the ultimate goal is to increase the standard ALS care and research. This brief report aims to describe the formation of INARC, the 2023 INARC meeting, as well as to report topics discussed, lessons learned and challenges raised by INARC members.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"795-796"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Table of Contents - Poster Communications.","authors":"","doi":"10.1080/21678421.2024.2403295","DOIUrl":"https://doi.org/10.1080/21678421.2024.2403295","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":"25 sup1","pages":"i"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Theme 7 Pre-Clinical Therapeutic Strategies.","authors":"","doi":"10.1080/21678421.2024.2403304","DOIUrl":"https://doi.org/10.1080/21678421.2024.2403304","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":"25 sup1","pages":"197-217"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Theme 9 Clinical Trials and Trial Design.","authors":"","doi":"10.1080/21678421.2024.2403306","DOIUrl":"https://doi.org/10.1080/21678421.2024.2403306","url":null,"abstract":"","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":"25 sup1","pages":"232-261"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors affecting anticipatory grief of family carers supporting people living with Motor Neurone disease: the impact of disease symptomatology.","authors":"Ana Paula Trucco, Mizanur Khondoker, Naoko Kishita, Tamara Backhouse, Helen Copsey, Eneida Mioshi","doi":"10.1080/21678421.2024.2359559","DOIUrl":"10.1080/21678421.2024.2359559","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the effect of carer- and disease-related factors on anticipatory grief (AG) in family carers supporting people living with Motor Neurone Disease.</p><p><strong>Methods: </strong>Seventy-five carers from the UK and USA participated in this cross-sectional study, between July 2021 and February 2023. Participants completed assessments on: anticipatory grief (MMCGI-SF, comprising three sub-scales: Personal Sacrifice Burden, Heartfelt Sadness and Longing, Worry and Felt Isolation); person with MND (pwMND) behavioral changes (MiND-B) and disease severity (ALSFRS-R); carer-pwMND emotional bond (Relationship Closeness Scale), familism levels (Familism Scale), and reported hours of care provided. Multiple linear regression analyses were conducted to explore factors impacting carer AG.</p><p><strong>Results: </strong>AG total scores showed that 50.7% of carers were experiencing common grieving reactions, 22.6% presented intense grieving emotions, and 26.7% presented low grieving responses.Disease severity (regression coefficient, β = -0.31, <i>p</i> = 0.01, 95%CI -0.91 to -0.13) and behavioral changes (β = -0.34, <i>p</i> = 0.002, 95%CI -1.45 to -0.33) predicted AG total scores (proportion of explained variation, <i>R</i>²=0.38, <i>p</i> < 0.001).Regarding AG subscales, Personal Sacrifice Burden (<i>R</i>²=0.43, <i>p</i> < 0.001) was predicted by disease severity (β = -0.39, <i>p</i> < 0.001, 95%CI -0.42 to -0.11). Behavioral changes predicted Heartfelt Sadness and Longing (β = -0.27, <i>p</i> = 0.03, 95%CI -0.49 to -0.03; <i>R</i>² = 0.21, <i>p</i> = 0.01) and Worry and Felt Isolation (β = -0.42, <i>p</i> < 0.001, 95%CI -0.63 to -0.20; <i>R</i>²=0.33, <i>p</i> < 0.001).</p><p><strong>Conclusion: </strong>This study suggests that disease-related factors may be the strongest predictors of carer AG. Interventions addressing carers' understanding and management of MND symptoms seem crucial to support their experiences of loss and their acceptance of MND. Evidence-based support for carers in MND services is required.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"776-784"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11523914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141173782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Body mass index is lower in asymptomatic <i>C9orf72</i> expansion carriers but not in <i>SOD1</i> pathogenic variant carriers compared to gene negatives.","authors":"Ikjae Lee, Mark A Garret, Joanne Wuu, Elizabeth A Harrington, James D Berry, Timothy M Miller, Matthew Harms, Michael Benatar, Neil Shneider","doi":"10.1080/21678421.2024.2396831","DOIUrl":"10.1080/21678421.2024.2396831","url":null,"abstract":"<p><p><i>Objective</i>: To examine the relationship between body mass index (BMI) and genotype among pre-symptomatic carriers of different pathogenic variants associated with amyotrophic lateral sclerosis. <i>Methods</i>: <i>C9orf72+</i> carriers, <i>SOD1+</i> carriers, and pathogenic variant negative controls (Gene-Negatives) were included from 3 largely independent cohorts: ALS Families Project <i>(ALS-Families);</i> Dominantly inherited ALS <i>(DIALS);</i> and Pre-symptomatic Familial ALS (<i>Pre-fALS</i>). First reported (<i>ALS-Families</i>) or measured (<i>DIALS</i> and <i>Pre-fALS</i>) weight and height were used to calculate BMI. Age at weight measurement, self-reported sex (male <i>vs.</i> female), and highest education (high school or below <i>vs.</i> college education <i>vs</i>. graduate school or above) were extracted. The associations between BMI and genotype in each cohort were examined with multivariable linear regression models, adjusted for age, sex, and education. <i>Results</i>: A total of 223 <i>C9orf72+</i> carriers, 135 <i>SOD1+</i> carriers, and 191 Gene-Negatives were included, deriving from <i>ALS-Families</i> (<i>n</i> = 114, median age 46, 37% male), <i>DIALS</i> (<i>n</i> = 221, median age 46, 30% male), and <i>Pre-fALS</i> (<i>n</i> = 214, median age 44, 39% male). Adjusting for age, sex, and education, the mean BMI of <i>C9orf72+</i> carriers was lower than Gene-Negatives by 2.4 units (95% confidence interval [CI] = 0.3-4.6, <i>p</i> = 0.02) in <i>ALS-Families</i>; 2.7 units (95% CI = 0.9-4.4, <i>p</i> = 0.003) in <i>DIALS</i>; and 1.9 units (95% CI = 0.5-4.2, <i>p</i> = 0.12) in <i>Pre-fALS</i>. There were no significant differences in BMI between <i>SOD1+</i> carriers and Gene-Negatives in any of the 3 cohorts. <i>Conclusions</i>: Compared to Gene-Negatives, average BMI is lower in asymptomatic <i>C9orf72+</i> carriers across 3 cohorts while no significant difference was found between Gene-Negatives and <i>SOD1+</i> carriers.</p>","PeriodicalId":72184,"journal":{"name":"Amyotrophic lateral sclerosis & frontotemporal degeneration","volume":" ","pages":"672-679"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}