Pub Date : 2024-04-01Epub Date: 2024-02-28DOI: 10.1080/14737175.2024.2323568
Suresh Pujar, J Helen Cross
Introduction: Lennox Gastaut syndrome (LGS) as an electroclinical diagnosis has been utilized as a clinical entity for more than 70 years. However, with the recognition of other distinct electroclinical epilepsy syndromes, no consistent single etiology, and the variability of criteria used in clinical trials, the clinical utility of such a diagnosis has been questioned. Recently, the International League Against Epilepsy for the first time defined diagnostic criteria for epilepsy syndromes, thereby allowing consistent language and inclusion criteria to be utilized.
Areas covered: Recent diagnostic criteria for syndrome diagnosis are explored as defined by the International League Against Epilepsy, with further literature reviewed to highlight relevant features, and differential diagnosis explored.
Expert opinion: Developmental and Epileptic Encephalopathy (DEE) is an overall term that may be descriptive of many different epilepsies, most of early onset, whether electroclinically or etiologically defined, of which LGS is one. Although we have moved forward in defining an increasing number of etiologically specific syndromes, this to date remains a minority of the DEEs. Although there is progress with precision medicine targeted at specific causes, the term LGS still remains useful as a diagnosis in defining treatment options, as well as overall prognosis.
{"title":"Diagnosis of Lennox-Gastaut syndrome and strategies for early recognition.","authors":"Suresh Pujar, J Helen Cross","doi":"10.1080/14737175.2024.2323568","DOIUrl":"10.1080/14737175.2024.2323568","url":null,"abstract":"<p><strong>Introduction: </strong>Lennox Gastaut syndrome (LGS) as an electroclinical diagnosis has been utilized as a clinical entity for more than 70 years. However, with the recognition of other distinct electroclinical epilepsy syndromes, no consistent single etiology, and the variability of criteria used in clinical trials, the clinical utility of such a diagnosis has been questioned. Recently, the International League Against Epilepsy for the first time defined diagnostic criteria for epilepsy syndromes, thereby allowing consistent language and inclusion criteria to be utilized.</p><p><strong>Areas covered: </strong>Recent diagnostic criteria for syndrome diagnosis are explored as defined by the International League Against Epilepsy, with further literature reviewed to highlight relevant features, and differential diagnosis explored.</p><p><strong>Expert opinion: </strong>Developmental and Epileptic Encephalopathy (DEE) is an overall term that may be descriptive of many different epilepsies, most of early onset, whether electroclinically or etiologically defined, of which LGS is one. Although we have moved forward in defining an increasing number of etiologically specific syndromes, this to date remains a minority of the DEEs. Although there is progress with precision medicine targeted at specific causes, the term LGS still remains useful as a diagnosis in defining treatment options, as well as overall prognosis.</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139982762","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}
Pub Date : 2024-03-14DOI: 10.1080/14737175.2024.2329306
Ann Childress, Nicolas Vaughn
The dextroamphetamine transdermal system (d-ATS) is a stimulant patch recently approved by the United States (U.S.) Food and Drug Administration for the treatment of attention-deficit/hyperactivity...
{"title":"A critical review of the dextroamphetamine transdermal system for the treatment of ADHD in adults and pediatric patients","authors":"Ann Childress, Nicolas Vaughn","doi":"10.1080/14737175.2024.2329306","DOIUrl":"https://doi.org/10.1080/14737175.2024.2329306","url":null,"abstract":"The dextroamphetamine transdermal system (d-ATS) is a stimulant patch recently approved by the United States (U.S.) Food and Drug Administration for the treatment of attention-deficit/hyperactivity...","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140147253","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}
Pub Date : 2024-03-01Epub Date: 2023-12-19DOI: 10.1080/14737175.2023.2295417
Daniel Fatori, Ives C Passos, André R Brunoni
{"title":"Is internet-based psychological therapy effective for treating major depressive disorder?","authors":"Daniel Fatori, Ives C Passos, André R Brunoni","doi":"10.1080/14737175.2023.2295417","DOIUrl":"10.1080/14737175.2023.2295417","url":null,"abstract":"","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138801849","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}
Pub Date : 2024-03-01Epub Date: 2024-02-07DOI: 10.1080/14737175.2024.2314183
Anamaria Jurcau, Aurel Simion, Maria Carolina Jurcau
Introduction: Being an inherited neurodegenerative disease with an identifiable genetic defect, Huntington's disease (HD) is a suitable candidate for early intervention, possibly even in the pre-symptomatic stage. Our recent advances in elucidating the pathogenesis of HD have revealed a series of novel potential therapeutic targets, among which immunotherapies are actively pursued in preclinical experiments.
Areas covered: This review focuses on the potential of antibody-based treatments targeting various epitopes (of mutant huntingtin as well as phosphorylated tau) that are currently evaluated in vitro and in animal experiments. The references used in this review were retrieved from the PubMed database, searching for immunotherapies in HD, and clinical trial registries were reviewed for molecules already evaluated in clinical trials.
Expert opinion: Antibody-based therapies have raised considerable interest in a series of neurodegenerative diseases characterized by deposition of aggregated of aberrantly folded proteins, HD included. Intrabodies and nanobodies can interact with mutant huntingtin inside the nervous cells. However, the conflicting results obtained with some of these intrabodies highlight the need for proper choice of epitopes and for developing animal models more closely mimicking human disease. Approval of these strategies will require a considerable financial and logistic effort on behalf of healthcare systems.
{"title":"Emerging antibody-based therapies for Huntington's disease: current status and perspectives for future development.","authors":"Anamaria Jurcau, Aurel Simion, Maria Carolina Jurcau","doi":"10.1080/14737175.2024.2314183","DOIUrl":"10.1080/14737175.2024.2314183","url":null,"abstract":"<p><strong>Introduction: </strong>Being an inherited neurodegenerative disease with an identifiable genetic defect, Huntington's disease (HD) is a suitable candidate for early intervention, possibly even in the pre-symptomatic stage. Our recent advances in elucidating the pathogenesis of HD have revealed a series of novel potential therapeutic targets, among which immunotherapies are actively pursued in preclinical experiments.</p><p><strong>Areas covered: </strong>This review focuses on the potential of antibody-based treatments targeting various epitopes (of mutant huntingtin as well as phosphorylated tau) that are currently evaluated in vitro and in animal experiments. The references used in this review were retrieved from the PubMed database, searching for immunotherapies in HD, and clinical trial registries were reviewed for molecules already evaluated in clinical trials.</p><p><strong>Expert opinion: </strong>Antibody-based therapies have raised considerable interest in a series of neurodegenerative diseases characterized by deposition of aggregated of aberrantly folded proteins, HD included. Intrabodies and nanobodies can interact with mutant huntingtin inside the nervous cells. However, the conflicting results obtained with some of these intrabodies highlight the need for proper choice of epitopes and for developing animal models more closely mimicking human disease. Approval of these strategies will require a considerable financial and logistic effort on behalf of healthcare systems.</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139697235","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}
Pub Date : 2024-03-01Epub Date: 2024-01-30DOI: 10.1080/14737175.2024.2311275
Jolin B Yamin, Samantha M Meints, Robert R Edwards
{"title":"Beyond pain catastrophizing: rationale and recommendations for targeting trauma in the assessment and treatment of chronic pain.","authors":"Jolin B Yamin, Samantha M Meints, Robert R Edwards","doi":"10.1080/14737175.2024.2311275","DOIUrl":"10.1080/14737175.2024.2311275","url":null,"abstract":"","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10923018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139563566","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}
Pub Date : 2024-03-01Epub Date: 2024-02-07DOI: 10.1080/14737175.2024.2313548
Frank M C Besag, Michael J Vasey, Richard F M Chin
Introduction: Lennox-Gastaut syndrome (LGS) is a severe childhood-onset developmental and epileptic encephalopathy characterized by treatment-refractory seizures, including tonic/atonic 'drop' seizures, and intellectual impairment and slow spike-wave discharges on the electroencephalogram. Fenfluramine, previously prescribed as a weight-loss drug but then withdrawn, has recently been approved in the US, EU, and UK for the adjunct treatment of seizures associated with LGS.
Areas covered: The authors review the efficacy and safety findings from clinical trials of fenfluramine in LGS. The authors then discuss the evidence for adverse effects that may be of particular concern to fenfluramine, namely cardiac abnormalities, and weight loss, in the context of the use of fenfluramine for the treatment of the refractory seizures in LGS.
Expert opinion: Fenfluramine has demonstrated efficacy in reducing the frequency of seizures in LGS, notably drop seizures, in short-term and long-term clinical trials. Valvular heart disease and pulmonary hypertension have not been reported at the low doses (≤26 mg/day) used in these studies, however, data are limited. Due to its novel mechanism of action, fenfluramine may be of benefit in LGS which has not responded adequately to other antiseizure medications. However, none of these medications, including fenfluramine, achieves the ultimate goal of seizure freedom in most cases.
{"title":"Evaluating fenfluramine hydrochloride as an oral solution for the treatment of seizures associated with Lennox-Gastaut syndrome.","authors":"Frank M C Besag, Michael J Vasey, Richard F M Chin","doi":"10.1080/14737175.2024.2313548","DOIUrl":"10.1080/14737175.2024.2313548","url":null,"abstract":"<p><strong>Introduction: </strong>Lennox-Gastaut syndrome (LGS) is a severe childhood-onset developmental and epileptic encephalopathy characterized by treatment-refractory seizures, including tonic/atonic 'drop' seizures, and intellectual impairment and slow spike-wave discharges on the electroencephalogram. Fenfluramine, previously prescribed as a weight-loss drug but then withdrawn, has recently been approved in the US, EU, and UK for the adjunct treatment of seizures associated with LGS.</p><p><strong>Areas covered: </strong>The authors review the efficacy and safety findings from clinical trials of fenfluramine in LGS. The authors then discuss the evidence for adverse effects that may be of particular concern to fenfluramine, namely cardiac abnormalities, and weight loss, in the context of the use of fenfluramine for the treatment of the refractory seizures in LGS.</p><p><strong>Expert opinion: </strong>Fenfluramine has demonstrated efficacy in reducing the frequency of seizures in LGS, notably drop seizures, in short-term and long-term clinical trials. Valvular heart disease and pulmonary hypertension have not been reported at the low doses (≤26 mg/day) used in these studies, however, data are limited. Due to its novel mechanism of action, fenfluramine may be of benefit in LGS which has not responded adequately to other antiseizure medications. However, none of these medications, including fenfluramine, achieves the ultimate goal of seizure freedom in most cases.</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691592","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}
Pub Date : 2024-03-01Epub Date: 2024-02-15DOI: 10.1080/14737175.2024.2316153
Juliann B Purcell, Bethany Brand, Heidi A Browne, Richard A Chefetz, Meghan Shanahan, Zoe A Bair, Kim A Baranowski, Vona Davis, Patricia Mangones, Rebecca L Modell, Cori A Palermo, Emma C Robertson, Matthew A Robinson, Laura Ward, Sherry Winternitz, Milissa L Kaufman, Lauren A M Lebois
Introduction: Dissociative identity disorder (DID) is a treatable mental health condition that is associated with a range of psychobiological manifestations. However, historical controversy, modern day misunderstanding, and lack of professional education have prevented accurate treatment information from reaching most clinicians and patients. These obstacles also have slowed empirical efforts to improve treatment outcomes for people with DID. Emerging neurobiological findings in DID provide essential information that can be used to improve treatment outcomes.
Areas covered: In this narrative review, the authors discuss symptom characteristics of DID, including dissociative self-states. Current treatment approaches are described, focusing on empirically supported psychotherapeutic interventions for DID and pharmacological agents targeting dissociative symptoms in other conditions. Neurobiological correlates of DID are reviewed, including recent research aimed at identifying a neural signature of DID.
Expert opinion: Now is the time to move beyond historical controversy and focus on improving DID treatment availability and efficacy. Neurobiological findings could optimize treatment by reducing shame, aiding assessment, providing novel interventional brain targets and guiding novel pharmacologic and psychotherapeutic interventions. The inclusion of those with lived experience in the design, planning and interpretation of research investigations is another powerful way to improve health outcomes for those with DID.
简介分离性身份识别障碍(DID)是一种可治疗的精神疾病,与一系列心理生物学表现相关。然而,由于历史上的争议、现代人的误解以及缺乏专业教育,大多数临床医生和患者无法获得准确的治疗信息。这些障碍也延缓了改善 DID 患者治疗效果的经验努力。新出现的 DID 神经生物学发现提供了可用于改善治疗效果的重要信息:在这篇叙述性综述中,作者讨论了 DID 的症状特征,包括分离性自我状态。文中介绍了当前的治疗方法,重点是针对 DID 的经验性心理治疗干预措施和针对其他情况下分离症状的药物治疗。回顾了 DID 的神经生物学相关性,包括旨在确定 DID 神经特征的最新研究:专家观点:现在是超越历史争议,专注于提高 DID 治疗可用性和疗效的时候了。神经生物学研究成果可以通过减少羞耻感、帮助评估、提供新的大脑干预目标以及指导新的药物和心理治疗干预来优化治疗。让有生活经验的人参与研究调查的设计、规划和解释,是改善 DID 患者健康状况的另一种有效方法。
{"title":"Treatment of dissociative identity disorder: leveraging neurobiology to optimize success.","authors":"Juliann B Purcell, Bethany Brand, Heidi A Browne, Richard A Chefetz, Meghan Shanahan, Zoe A Bair, Kim A Baranowski, Vona Davis, Patricia Mangones, Rebecca L Modell, Cori A Palermo, Emma C Robertson, Matthew A Robinson, Laura Ward, Sherry Winternitz, Milissa L Kaufman, Lauren A M Lebois","doi":"10.1080/14737175.2024.2316153","DOIUrl":"10.1080/14737175.2024.2316153","url":null,"abstract":"<p><strong>Introduction: </strong>Dissociative identity disorder (DID) is a treatable mental health condition that is associated with a range of psychobiological manifestations. However, historical controversy, modern day misunderstanding, and lack of professional education have prevented accurate treatment information from reaching most clinicians and patients. These obstacles also have slowed empirical efforts to improve treatment outcomes for people with DID. Emerging neurobiological findings in DID provide essential information that can be used to improve treatment outcomes.</p><p><strong>Areas covered: </strong>In this narrative review, the authors discuss symptom characteristics of DID, including dissociative self-states. Current treatment approaches are described, focusing on empirically supported psychotherapeutic interventions for DID and pharmacological agents targeting dissociative symptoms in other conditions. Neurobiological correlates of DID are reviewed, including recent research aimed at identifying a neural signature of DID.</p><p><strong>Expert opinion: </strong>Now is the time to move beyond historical controversy and focus on improving DID treatment availability and efficacy. Neurobiological findings could optimize treatment by reducing shame, aiding assessment, providing novel interventional brain targets and guiding novel pharmacologic and psychotherapeutic interventions. The inclusion of those with lived experience in the design, planning and interpretation of research investigations is another powerful way to improve health outcomes for those with DID.</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10950423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139734800","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}
Pub Date : 2024-03-01Epub Date: 2024-02-05DOI: 10.1080/14737175.2024.2313550
Ludovic Samalin, Ludivine Boudieu, Pierre Michel Llorca
Introduction: An aripiprazole long-acting injectable (LAI) antipsychotic is now available for gluteal administration every 2 months via two different formulations: aripiprazole lauroxil (AL) and aripiprazole monohydrate (Ari 2MRTU). These longer dosing regimens of aripiprazole LAI offer new potential benefits for patients.
Areas covered: The authors review the evidence supporting the efficacy and safety of aripiprazole LAIs given every 2 months for the treatment of schizophrenia or bipolar disorder (BD) in adults. The article culminates with the authors' expert perspectives on the subject.
Expert opinion: AL 1064 mg every 2 months has established efficacy for the treatment of schizophrenia based on pharmacokinetic bridging studies and prospective data for treatment of an acute exacerbation of schizophrenia. In an open-label trial, Ari 2MRTU showed efficacy for the treatment of schizophrenia and BD type I based on pharmacokinetic parameters (comparable to aripiprazole once-monthly 400 mg); it also showed efficacy regarding the secondary endpoints. Multiple doses of AL 1064 mg or Ari 2MRTU 960 mg are generally well tolerated, in line with the safety profile of oral aripiprazole, with the exception of the injection-site reactions. While AL may require a 1-day initiation regimen, Ari 2MRTU 960 covers all the recommended doses of oral aripiprazole (10-20 mg).
简介:阿立哌唑长效注射剂(LAI)是一种抗精神病药物,目前有两种不同的制剂:阿立哌唑月桂锭(AL)和阿立哌唑一水合物(Ari 2MRTU),可每两个月通过臀部给药一次。阿立哌唑LAI的这些较长给药方案为患者带来了新的潜在益处:作者回顾了支持每两个月服用一次阿立哌唑LAI治疗成人精神分裂症或双相情感障碍(BD)的疗效和安全性的证据。文章最后提出了作者的专家观点:根据药代动力学桥接研究和治疗精神分裂症急性加重期的前瞻性数据,AL 1064 毫克每 2 个月一次治疗精神分裂症的疗效已经确立。在一项开放标签试验中,根据药代动力学参数(与阿立哌唑每月一次,每次 400 毫克相当),阿里 2MRTU 对治疗精神分裂症和 BD I 型有疗效;在次要终点方面也显示出疗效。多剂量 AL 1064 毫克或 Ari 2MRTU 960 毫克的耐受性总体良好,与口服阿立哌唑的安全性一致,但注射部位反应除外。AL 可能需要 1 天的起始方案,而 Ari 2MRTU 960 则涵盖了口服阿立哌唑的所有推荐剂量(10-20 毫克)。
{"title":"Evaluating the efficacy and safety of the currently available once-every-two months long-acting injectable formulations of aripiprazole for the treatment of schizophrenia or as a maintenance monotherapy for bipolar I disorder in adults.","authors":"Ludovic Samalin, Ludivine Boudieu, Pierre Michel Llorca","doi":"10.1080/14737175.2024.2313550","DOIUrl":"10.1080/14737175.2024.2313550","url":null,"abstract":"<p><strong>Introduction: </strong>An aripiprazole long-acting injectable (LAI) antipsychotic is now available for gluteal administration every 2 months via two different formulations: aripiprazole lauroxil (AL) and aripiprazole monohydrate (Ari 2MRTU). These longer dosing regimens of aripiprazole LAI offer new potential benefits for patients.</p><p><strong>Areas covered: </strong>The authors review the evidence supporting the efficacy and safety of aripiprazole LAIs given every 2 months for the treatment of schizophrenia or bipolar disorder (BD) in adults. The article culminates with the authors' expert perspectives on the subject.</p><p><strong>Expert opinion: </strong>AL 1064 mg every 2 months has established efficacy for the treatment of schizophrenia based on pharmacokinetic bridging studies and prospective data for treatment of an acute exacerbation of schizophrenia. In an open-label trial, Ari 2MRTU showed efficacy for the treatment of schizophrenia and BD type I based on pharmacokinetic parameters (comparable to aripiprazole once-monthly 400 mg); it also showed efficacy regarding the secondary endpoints. Multiple doses of AL 1064 mg or Ari 2MRTU 960 mg are generally well tolerated, in line with the safety profile of oral aripiprazole, with the exception of the injection-site reactions. While AL may require a 1-day initiation regimen, Ari 2MRTU 960 covers all the recommended doses of oral aripiprazole (10-20 mg).</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139650569","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}
Pub Date : 2024-03-01Epub Date: 2024-01-23DOI: 10.1080/14737175.2024.2306855
Corrado Angelini
Introduction: Glycogenosis type II (GSDII) is a rare autosomal disorder that is caused by the deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Autophagy dysregulation plays a critical role. Importantly, since 2006, both patients with infantile (classic Pompe disease) and adult GSDII (late-onset Pompe disease or LOPD) have been treated with enzyme replacement therapy (ERT). To support this use, several double-blind and observational studies including large cohorts of GSDII patients have been undertaken and have shown ERT to be effective in modifying the natural course of disease. Indeed, most LOPD cases improve in the first 20 months of treatment in a six-minute walk test (6MWT), while those who are untreated do not; instead, their response declines over time.
Areas covered: The author reviews avalglucosidase alpha, a therapy approved by both the FDA and European regulatory agencies. Herein, the author considers the pathophysiological approaches such as the role of enzyme entry, autophagy, and the response to ERT treatment of motor and respiratory components.
Expert opinion: There has been a notable drive toward the research of various aspects of this disease regarding the role of new enzyme penetration and immune adverse events. Consequently, avalglucosidase alpha might be a further step forward.
{"title":"Evaluating avalglucosidase alfa for the management of late-onset Pompe disease.","authors":"Corrado Angelini","doi":"10.1080/14737175.2024.2306855","DOIUrl":"10.1080/14737175.2024.2306855","url":null,"abstract":"<p><strong>Introduction: </strong>Glycogenosis type II (GSDII) is a rare autosomal disorder that is caused by the deficiency of alpha-glucosidase, a lysosomal enzyme that hydrolyzes glycogen to glucose. Autophagy dysregulation plays a critical role. Importantly, since 2006, both patients with infantile (classic Pompe disease) and adult GSDII (late-onset Pompe disease or LOPD) have been treated with enzyme replacement therapy (ERT). To support this use, several double-blind and observational studies including large cohorts of GSDII patients have been undertaken and have shown ERT to be effective in modifying the natural course of disease. Indeed, most LOPD cases improve in the first 20 months of treatment in a six-minute walk test (6MWT), while those who are untreated do not; instead, their response declines over time.</p><p><strong>Areas covered: </strong>The author reviews avalglucosidase alpha, a therapy approved by both the FDA and European regulatory agencies. Herein, the author considers the pathophysiological approaches such as the role of enzyme entry, autophagy, and the response to ERT treatment of motor and respiratory components.</p><p><strong>Expert opinion: </strong>There has been a notable drive toward the research of various aspects of this disease regarding the role of new enzyme penetration and immune adverse events. Consequently, avalglucosidase alpha might be a further step forward.</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139519950","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}
Pub Date : 2024-03-01Epub Date: 2024-02-20DOI: 10.1080/14737175.2024.2313547
Nicolás Castellanos-Perilla, Miguel Germán Borda, Dag Aarsland, George E Barreto
Introduction: Targeted interventions are needed to delay or prevent the onset of neurodegenerative diseases. Poor dietary habits are associated with cognitive decline, highlighting the benefits of a healthy diet with fish and polyunsaturated fatty acids (PUFAs). Intake of omega-3 PUFAs docosahexaenoic acid (DHA), α-linolenic acid (ALA) and eicosapentaenoic acid (EPA) is linked with healthy aging, cardiovascular benefits, and reduced risk of Alzheimer's disease. Although omega-3 has health benefits, its intake is often inadequate and insufficient in modern diets. Although fish oil supplements offer an alternative source, inconsistent results from clinical trials raise questions about the factors determining their success.
Areas covered: In this this review, the authors discuss the aforementioned determining factors and highlight strategies that could enhance the effectiveness of omega-3 PUFAs interventions for dementia and cognitive decline. Moreover, the authors provide suggestions for potential future research.
Expert opinion: Factors such as diet, lifestyle, and genetic predisposition can all influence the effectiveness of omega-3 supplementation. When implementing clinical trials, it is crucial to consider these factors and recognize their potential impact on the interpretation of results. It is important to study each variable independently and the interactions between them.
{"title":"An analysis of omega-3 clinical trials and a call for personalized supplementation for dementia prevention.","authors":"Nicolás Castellanos-Perilla, Miguel Germán Borda, Dag Aarsland, George E Barreto","doi":"10.1080/14737175.2024.2313547","DOIUrl":"10.1080/14737175.2024.2313547","url":null,"abstract":"<p><strong>Introduction: </strong>Targeted interventions are needed to delay or prevent the onset of neurodegenerative diseases. Poor dietary habits are associated with cognitive decline, highlighting the benefits of a healthy diet with fish and polyunsaturated fatty acids (PUFAs). Intake of omega-3 PUFAs docosahexaenoic acid (DHA), α-linolenic acid (ALA) and eicosapentaenoic acid (EPA) is linked with healthy aging, cardiovascular benefits, and reduced risk of Alzheimer's disease. Although omega-3 has health benefits, its intake is often inadequate and insufficient in modern diets. Although fish oil supplements offer an alternative source, inconsistent results from clinical trials raise questions about the factors determining their success.</p><p><strong>Areas covered: </strong>In this this review, the authors discuss the aforementioned determining factors and highlight strategies that could enhance the effectiveness of omega-3 PUFAs interventions for dementia and cognitive decline. Moreover, the authors provide suggestions for potential future research.</p><p><strong>Expert opinion: </strong>Factors such as diet, lifestyle, and genetic predisposition can all influence the effectiveness of omega-3 supplementation. When implementing clinical trials, it is crucial to consider these factors and recognize their potential impact on the interpretation of results. It is important to study each variable independently and the interactions between them.</p>","PeriodicalId":12190,"journal":{"name":"Expert Review of Neurotherapeutics","volume":null,"pages":null},"PeriodicalIF":4.3,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11090157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139912435","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}