Expert Opinion on Orphan Drugs最新文献_第3页

Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1 Lumasiran:扩大原发性1型高血氧症患者的治疗选择

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-11-25 DOI: 10.1080/21678707.2021.2003779

Sally-Anne Hulton

{"title":"Lumasiran: expanding the treatment options for patients with primary hyperoxaluria type 1","authors":"Sally-Anne Hulton","doi":"10.1080/21678707.2021.2003779","DOIUrl":"https://doi.org/10.1080/21678707.2021.2003779","url":null,"abstract":"<p><b>ABSTRACT</b></p><h2>Introduction </h2><p>Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism whereby excessive endogenous oxalate production can result in kidney failure, systemic oxalosis and early death. The approval of the first therapeutic agent to alter the treatment pathway for PH1 – lumasiran, a novel RNA interference-based drug – represents a new era in the management of patients with PH1.</p><h2>Areas covered </h2><p>A description of PH1, its pathophysiology, clinical characteristics and available treatment strategies is provided, with a focus on substrate reduction therapy and the development of lumasiran for pediatric and adult patients with PH1.</p><h2>Expert opinion </h2><p>Until very recently, treatment options for patients with PH1 have been burdensome, ineffective in preventing disease progression or associated with high morbidity. Lumasiran targets hepatic glycolate oxidase, the enzyme responsible for the synthesis of the oxalate precursor, glyoxylate. Administered subcutaneously monthly initially and then quarterly, it has been found to significantly lower urinary and plasma oxalate levels, potentially reduce the development of nephrocalcinosis and halt disease progression. For the first time, patients with PH1 have a treatment that is well tolerated, effective, and administered in a way that does not adversely impact the quality of life of those affected by this devastating disease.</p>","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"32 2","pages":""},"PeriodicalIF":0.8,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138527955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Steroid alternatives for managing eosinophilic lung diseases 治疗嗜酸性肺疾病的类固醇替代品

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-10-03 DOI: 10.1080/21678707.2021.2003777

Quentin Delcros, M. Groh, M. Nasser, J. Kahn, V. Cottin

{"title":"Steroid alternatives for managing eosinophilic lung diseases","authors":"Quentin Delcros, M. Groh, M. Nasser, J. Kahn, V. Cottin","doi":"10.1080/21678707.2021.2003777","DOIUrl":"https://doi.org/10.1080/21678707.2021.2003777","url":null,"abstract":"ABSTRACT Introduction Chronic pulmonary eosinophilia is a rare condition, usually highly responsive to systemic glucocorticoids, yet relapses are frequent and require long-term treatment associated with significant morbidity. Areas covered We review the main conditions causing chronic pulmonary eosinophilia and glucocorticoid-sparing agents in this setting. Expert opinion An individually tailored etiologic assessment is mandatory in all patients presenting with chronic pulmonary eosinophilia. Reducing the cumulative exposure to glucocorticoids by treating flares with short courses of systemic glucocorticoids is both safe and feasible in idiopathic chronic eosinophilic pneumonia. In frequently relapsing patients and in those requiring high doses of glucocorticoids, alternatives to glucocorticoids should be considered. Mepolizumab has been approved in several countries for the treatment of both hypereosinophilic syndrome and eosinophilic granulomatosis with polyangiitis. Given their ability to induce rapid and sustained depletion in blood and tissue eosinophils (e.g. benralizumab and lirentelimab) and/or to curb Type 2-mediated inflammation (e.g. dupilumab), other biologics hold promise in these settings. Likewise, anti-IgE targeted therapies (i.e omalizumab) should be considered in the glucocorticoid-sparing therapeutic armamentarium of allergic or hypersensitivity-related diseases, including allergic bronchopulmonary aspergillosis. Other drugs (fevipiprant, tezepelumab) are at an early phase of development. Cost-effectiveness studies are lacking. Whether glucocorticoid-free treatment regimens are achievable in these conditions is unknown.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"9 1","pages":"205 - 218"},"PeriodicalIF":0.8,"publicationDate":"2021-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42393420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

An evaluation of onasemnogene abeparvovec for spinal muscular atrophy (SMN1) abeparvovec促性腺激素原治疗脊髓性肌萎缩（SMN1）的评价

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-10-03 DOI: 10.1080/21678707.2021.2003778

M. Waldrop, A. Connolly, J. Mendell

引用次数: 0

Efficacy of sirolimus for treatment of autoimmune lymphoproliferative syndrome: a systematic review of open label clinical studies 西罗莫司治疗自身免疫性淋巴增生综合征的疗效：开放标签临床研究的系统综述

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-08-27 DOI: 10.1080/21678707.2021.1970523

Shweta Sharma, M. Hussain, N. Agarwal, D. Bhurani, Mohd Ashif Khan, Md Aejaz Ahmad Ansari

{"title":"Efficacy of sirolimus for treatment of autoimmune lymphoproliferative syndrome: a systematic review of open label clinical studies","authors":"Shweta Sharma, M. Hussain, N. Agarwal, D. Bhurani, Mohd Ashif Khan, Md Aejaz Ahmad Ansari","doi":"10.1080/21678707.2021.1970523","DOIUrl":"https://doi.org/10.1080/21678707.2021.1970523","url":null,"abstract":"Background: Although autoimmune lymphoproliferative syndrome (ALPS) is an unusual and fatal disorder to which no absolute cure stands, there also remains substantial diversity with majority of subjects exhibiting only slight associated morbidities. Several pre-clinical and clinical evidence in the past have reported sirolimus to be an effective therapeutic option for patients with autoimmune cytopenias who are often resistant and intolerant to standard treatment. Thus, this systematic review aimed to assess the efficacy of sirolimus for treatment of autoimmune cytopenias, particularly ALPS. Methods: This systematic review was performed in adherence to the PRISMA 2009 checklist for preferred reporting items for systematic reviews and meta-analyses. Data search was carried out in PubMed and clinicaltrials.gov from inception to 10 June 2020. Newcastle-Ottawa Scale (NOS) was used for assessing study quality. Results: A total of three open label clinical studies comprising 94 patients with ALPS (53.20% males and 46.80% females) were included. The majority of patients with ALPS demonstrated rapid, complete, and durable responses with recovery of their primary disease manifestations. Stabilization of lymphoproliferation and a decrease in abnormal DNT cells was also noted. Moreover, sirolimus was found to be safe with few side effects that could be tolerated well. Conclusion: This systematic review corroborated on available evidence which jointly emphasizes that complete responses could be seen in estimates of 50% or more patients with ALPS and although, there is a need of larger trials, the findings do support the chronic use of sirolimus for treatment of ALPS. ARTICLE HISTORY Received 23 April 2021 Accepted 17 August 2021","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"1 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2021-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44023803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Patient experience in a rare disease: application of the IEXPAC questionnaire in hereditary transthyretin-mediated amyloidosis 罕见疾病的患者经验:IEXPAC问卷在遗传性转甲状腺素介导淀粉样变中的应用

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-06-03 DOI: 10.1080/21678707.2021.1953468

A. Peláez Bejarano, Maria de las Aguas Robustillo Cortés, M. G. Guzmán Ramos

{"title":"Patient experience in a rare disease: application of the IEXPAC questionnaire in hereditary transthyretin-mediated amyloidosis","authors":"A. Peláez Bejarano, Maria de las Aguas Robustillo Cortés, M. G. Guzmán Ramos","doi":"10.1080/21678707.2021.1953468","DOIUrl":"https://doi.org/10.1080/21678707.2021.1953468","url":null,"abstract":"ABSTRACT Background: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a rare, disabling and potentially fatal disease. The purpose of this investigation was to analyze the experience reported by hATTR amyloidosis population and develop a strategy to improve results for patients searching Internet for knowledge about their disease. Methods: A cross-sectional study, including adult hATTR amyloidosis patients with active treatment managed at a secondary hospital, was conducted during 2020. The study was carried out in two phases: first, the patient’s experience was analyzed through the IEXPAC questionnaire; second, an intervention was carried out to improve the worst-valued indicators. Results: The survey was conducted on 15 patients. The mean ± SD IEXPAC score was 3.8 ± 0.9. The best scores were those directed to the care offered by healthcare professionals. The worst scores were for obtaining information on Internet and use of the mobile phone to consult medical records. The application of the IEXPAC questionnaire resulted in the production of informative material. Conclusion: This is the first investigation that applies the IEXPAC questionnaire to patients with hATTR amyloidosis. This study supplies useful finding that may be used in future investigations to address hATTR amyloidosis patients’ needs and challenges on the way to patient-centered care.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"9 1","pages":"175 - 180"},"PeriodicalIF":0.8,"publicationDate":"2021-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2021.1953468","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44194348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

European stakeholder perspectives on challenges to rare disease drug development – a qualitative study 欧洲利益相关者对罕见病药物开发挑战的看法——一项定性研究

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-06-03 DOI: 10.1080/21678707.2021.1953469

Sarala Joshi, Jessica Chen, M. Sultan, Shefali Singh, Syed Abedi, Sifan Zheng

引用次数: 0

An evaluation of nifurtimox for Chagas disease in children 硝呋噻肟治疗儿童恰加斯病的疗效评价

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-05-04 DOI: 10.1080/21678707.2021.1933431

Fernanda Lascano, J. Altcheh

{"title":"An evaluation of nifurtimox for Chagas disease in children","authors":"Fernanda Lascano, J. Altcheh","doi":"10.1080/21678707.2021.1933431","DOIUrl":"https://doi.org/10.1080/21678707.2021.1933431","url":null,"abstract":"ABSTRACT Introduction: Chagas disease (CD) is a zoonosis disease caused by Trypanosoma cruzi (T. cruzi) and currently affects 6 million people worldwide. Described 100 years ago, two drugs are available for treatment, nifurtimox (NFX) and benznidazole (BZN), developed over 50 years ago. Though BZN has been more commonly used for CD, new development efforts on NFX has been undertaken with its recently released pediatric formulation and an ongoing study continuation with long-term follow-up. Areas covered: In this narrative review, we searched electronic databases (e.g. PubMed, Cochrane) and critically analyzed clinical and preclinical studies about NFX for CD treatment from a pediatric perspective, focusing on pharmacodynamics, pharmacokinetics, metabolism, safety, tolerance, and clinical efficacy of this drug. Expert opinion: In order to achieve CD elimination goals, early diagnosis and opportune treatment are fundamental. In this context, the approval by FDA of NFX for children 0–18 years of age has made this drug the only one available in 0 to 2 years and over 12 age groups in USA. This approval might also change preconceptions about NFX safety and tolerance. Considering CD has only two pharmacological options, this is a significant step toward a new era for the treatment of this disease in the pediatric population.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"9 1","pages":"139 - 149"},"PeriodicalIF":0.8,"publicationDate":"2021-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2021.1933431","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44061296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Current and innovative therapeutic strategies for the treatment of giant cell arteritis 治疗巨细胞动脉炎的现有和创新治疗策略

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-05-04 DOI: 10.1080/21678707.2021.1932458

A. Sebastian, A. Tomelleri, B. Dasgupta

{"title":"Current and innovative therapeutic strategies for the treatment of giant cell arteritis","authors":"A. Sebastian, A. Tomelleri, B. Dasgupta","doi":"10.1080/21678707.2021.1932458","DOIUrl":"https://doi.org/10.1080/21678707.2021.1932458","url":null,"abstract":"ABSTRACT Introduction: Glucocorticoids represent a highly effective treatment for giant cell arteritis (GCA); however, steroid-dependency frequently hinders an adequate dose reduction. This has led to a flourishing interest in new therapeutic strategies. Areas covered: An analysis of the treatments for GCA was conducted and structured in four sections: summary data supporting the use of glucocorticoids; uncertainty regarding the use of antithrombotic agents are discussed; studies on different conventional steroid-sparing agents are reported; controlled trials with already available biologic agents and the design of those still ongoing are presented. The basis for this review is a literature search on PubMed of studies published until 31st December 2020 on GCA treatment. Expert opinion: New GCA patients should be stratified, and therapeutic management should be tailored accordingly. High-risk patients should be treated early with steroid-sparing agents. However, current evidence only supports the use of tocilizumab, with conflicting data on methotrexate. Results of controlled trials evaluating other agents, like mavrilimumab, will be released soon; hopefully, this will lead to their inclusion as alternatives to tocilizumab. Even if biologic drugs seem highly effective, their use could be limited by high costs; hence, clinical research should not forget about less expensive conventional agents, such as leflunomide.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"9 1","pages":"161 - 173"},"PeriodicalIF":0.8,"publicationDate":"2021-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2021.1932458","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44894887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Coenzyme Q10 and the exclusive club of diseases that show a limited response to treatment 辅酶Q10和对治疗反应有限的疾病

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-05-04 DOI: 10.1080/21678707.2021.1932459

Nadia Turton, Nathan L. Bowers, Sam Khajeh, I. Hargreaves, R. Heaton

{"title":"Coenzyme Q10 and the exclusive club of diseases that show a limited response to treatment","authors":"Nadia Turton, Nathan L. Bowers, Sam Khajeh, I. Hargreaves, R. Heaton","doi":"10.1080/21678707.2021.1932459","DOIUrl":"https://doi.org/10.1080/21678707.2021.1932459","url":null,"abstract":"ABSTRACT Introduction: Coenzyme Q10 (CoQ10) is a ubiquitous organic molecule with a significant role in the mitochondrial electron transport chain (ETC). As a result of its role in such an important biological process, CoQ10 deficiency has been implicated in the pathogenesis of numerous diseases such as Parkinson’s disease (PD) and multiple sclerosis (MS). This has led to multiple attempts to use CoQ10 supplementation as a treatment or pre-treatment with varying degrees of success. Areas covered: The present review will identify evidence of mitochondrial dysfunction in MS, PD and mitochondrial ETC disorders. In addition, the inability of Co10 supplementation to elicit significant clinical outcome in these disorders and possible flaws in these studies will be discussed. The databases utilized for this review were the Web of science and PubMed, with inclusive dates (1957–2021). Expert opinion: A lack of improved neurological outcome in these disorders post treatment with CoQ10 may be attributable to the limited ability of CoQ10 to cross the blood–brain barrier. Thus, CoQ10 alternatives should also be considered. Other factors including time of disease diagnosis, dosage, administration, and duration of CoQ10 therapy may have a significant influence on the efficacy of this treatment.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"9 1","pages":"151 - 160"},"PeriodicalIF":0.8,"publicationDate":"2021-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2021.1932459","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42288833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Advances in predicting patient survival in pulmonary sarcoidosis 预测肺结节病患者生存率的研究进展

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2021-04-03 DOI: 10.1080/21678707.2021.1925107

G. Kırkıl, E. Lower, R. Baughman

{"title":"Advances in predicting patient survival in pulmonary sarcoidosis","authors":"G. Kırkıl, E. Lower, R. Baughman","doi":"10.1080/21678707.2021.1925107","DOIUrl":"https://doi.org/10.1080/21678707.2021.1925107","url":null,"abstract":"ABSTRACT Introduction: Pulmonary disease remains the most common reason for death in sarcoidosis with pulmonary fibrosis and pulmonary hypertension the two most common causes of mortality. Although most sarcoidosis patients with pulmonary fibrosis have a benign outcome, up to 25% of these patients will die from respiratory failure. Unfortunately, over a third of sarcoidosis patients with pre-capillary pulmonary hypertension die within three years. Areas covered: A dedicated search of articles regarding sarcoidosis and survival up to 1 December 2020 formed the basis of the review. Several factors including the extent of pulmonary fibrosis on high-resolution computer tomography (HRCT), the severity of lung impairment on pulmonary function testing including reduction of diffusion of carbon monoxide in the lung (DLCO), and the presence of pulmonary hypertension are associated with an increased risk of death from pulmonary sarcoidosis. A recent composite score has been developed and verified as a useful tool to identify patients at higher mortality risk. Expert opinion: Several features from pulmonary function testing and chest imaging may identify those patients with increased risk for death. Information available from either the HRCT or DLCO alone may provide useful screening data.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":"9 1","pages":"113 - 122"},"PeriodicalIF":0.8,"publicationDate":"2021-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2021.1925107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47436666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1