Expert Opinion on Orphan Drugs最新文献_第7页

Establishing perinatal and neonatal features of Prader-Willi syndrome for efficient diagnosis and outcomes 建立Prader-Willi综合征的围产期和新生儿特征以获得有效诊断和结果

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-08-02 DOI: 10.1080/21678707.2020.1802718

Lili Yang, Bouzas Ma, Shujiong Mao, Qiong Zhou, Chaochun Zou

{"title":"Establishing perinatal and neonatal features of Prader-Willi syndrome for efficient diagnosis and outcomes","authors":"Lili Yang, Bouzas Ma, Shujiong Mao, Qiong Zhou, Chaochun Zou","doi":"10.1080/21678707.2020.1802718","DOIUrl":"https://doi.org/10.1080/21678707.2020.1802718","url":null,"abstract":"ABSTRACT Introduction Prader-Willi syndrome (PWS) is the most common genetic disease causing childhood morbid obesity. Early diagnosis and treatment are utmost important for improving prognosis and bettering outcome in PWS patients. However, the early diagnosis rate is still relatively low. One of the main reasons for delayed diagnosis is not sufficient recognition of perinatal and neonatal features of PWS in clinicians. Recognizing the perinatal features of PWS for early diagnosis is now becoming a hot research interest. Areas covered This review covers perinatal and neonatal features recognition which are valuable for obstetricians and neonatologists. We also provide a detailed genetic testing flow diagram for reference. A comprehensive search was undertaken using the databases including PubMed, Web of Science, Scopus, Cochrane databases. Expert opinion For obstetricians, if the pregnant women had combined prenatal features including polyhydramnios, decreased fetal movement, and or abnormal intrauterine fetal growth, amniocentesis can be considered, and PWS should be included as a differential diagnosis. For excluding diagnosis of PWS, methylation test should be done, and MS-MLPA is the optimal choice. If amniocentesis is not possible, molecular testing should be appointed after birth as soon as possible particularly for the neonates with presentations of hypotonia or sucking problem/feeding difficulty.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1802718","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41790742","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

Ravulizumab in the treatment of paroxysmal nocturnal hemoglobinuria Ravulizumab治疗阵发性夜间血红蛋白尿

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-08-02 DOI: 10.1080/21678707.2020.1804858

Hayeong Rho, R. Wells

{"title":"Ravulizumab in the treatment of paroxysmal nocturnal hemoglobinuria","authors":"Hayeong Rho, R. Wells","doi":"10.1080/21678707.2020.1804858","DOIUrl":"https://doi.org/10.1080/21678707.2020.1804858","url":null,"abstract":"ABSTRACT Introduction Eculizumab, the anti-C5 monoclonal antibody therapeutic, has revolutionized the treatment of Paroxysmal Nocturnal Hemoglobinuria (PNH) and has shown efficacy in other complement-mediated disorders including atypical Hemolytic Uremic Syndrome (aHUS) and Myasthenia Gravis (MG). Despite the effectiveness of eculizumab, challenges remain in the treatment of these diseases, including breakthrough hemolysis, frequent intravenous infusions, and cost; in an effort to mitigate these challenges, the new monoclonal therapeutic ravulizumab has been developed. Areas covered In this paper, we review the characteristics and clinical performance of ravulizumab and assess its potential utility in the treatment of PNH, and its position in this rapidly-developing therapeutic landscape. A review of published data up to Phase III of ravulizumab had been performed. Studies were identified via Google Scholar, PubMed, the United States National Library of Medicine Clinical Trials, citation chasing, and topic knowledge of the authors. Expert opinion Ravulizumab represents an important advance in the clinical care of complement-mediated disorders. Clinical trials demonstrate non-inferior efficacy and indistinguishable safety and tolerability to eculizumab, with added patient-preferred benefits including longer intervals between infusions. Though improved, physicians should be aware of the limitations of ravulizumab, including the need for intravenous infusions and possible breakthrough hemolysis.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1804858","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60429147","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

Current and emerging treatment options to prevent renal failure due to autosomal dominant polycystic kidney disease 当前和新兴的治疗方案，以防止肾功能衰竭，由于常染色体显性多囊肾病

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-08-02 DOI: 10.1080/21678707.2020.1804859

Gopala K. Rangan, A. Raghubanshi, Alissa Chaitarvornkit, Ashley N Chandra, Robert Gardos, A. Munt, M. Read, S. Saravanabavan, Jennifer Q. J. Zhang, A. Wong

{"title":"Current and emerging treatment options to prevent renal failure due to autosomal dominant polycystic kidney disease","authors":"Gopala K. Rangan, A. Raghubanshi, Alissa Chaitarvornkit, Ashley N Chandra, Robert Gardos, A. Munt, M. Read, S. Saravanabavan, Jennifer Q. J. Zhang, A. Wong","doi":"10.1080/21678707.2020.1804859","DOIUrl":"https://doi.org/10.1080/21678707.2020.1804859","url":null,"abstract":"ABSTRACT Introduction Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited cause of end-stage kidney disease (ESKD) in adults. The aim of this narrative review is to analyze current and emerging treatment options to delay ESKD due to ADPKD. Emerging treatments were defined as those that were in clinical trial (according to ClinicalTrial.gov database to July 2020) or in development. Areas covered The epidemiology and economic burden of ADPKD; molecular pathogenesis of ESKD; current (first-line; tolvaptan in groups with high-risk for progression to ESKD), emerging treatments under investigation [re-purposed small molecule drugs (SMDs): lixivaptan, venglustat, bardoxolone, tesevatinib, metformin; public health interventions: prescribed fluid intake, vitamin B3, ketone diet] and those in development (RGLS4326, VX-809, MR-L2, 2-doexyglucose). Expert opinion Over the next decade, the number of proven treatments will expand, providing opportunities to individualize therapy based on personal preferences and disease ontology; Major barriers to future research include the absence of disease-specific biomarkers, national disease-specific registries. In parallel, there is also a need for need for earlier pre-symptomatic diagnosis and enhancement of health-care service delivery. Addressing these gaps will enable ESKD to become an ultra-rare complication of ADPKD during the 21st century.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1804859","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47346776","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

Future concepts and therapy approaches for Peyronie’s disease Peyronie病的未来概念和治疗方法

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-07-31 DOI: 10.1080/21678707.2020.1804861

E. Choi, D. Schneider, P. Xu, F. El-Khatib, F. Yafi

{"title":"Future concepts and therapy approaches for Peyronie’s disease","authors":"E. Choi, D. Schneider, P. Xu, F. El-Khatib, F. Yafi","doi":"10.1080/21678707.2020.1804861","DOIUrl":"https://doi.org/10.1080/21678707.2020.1804861","url":null,"abstract":"ABSTRACT Introduction Collagenase Clostridium histolyticum (CCh) is the only drug approved by the US Food and Drug Administration for the treatment of Peyronie’s Disease (PD). However, it is limited in its scope of approval as well as its access for use internationally. Areas covered This review discusses the evidence on the expanded use of CCh for acute and atypical PD as well as novel, non-surgical treatment options that have been investigated since the FDA first approved of CCh. The PubMed database was thoroughly reviewed in the English-language for abstracts published between January 2013 to May 2020 using the keywords Peyronie’s disease, treatments, and therapy. A total of 90 unique articles were found to be relevant to the conservative management of PD. After excluding redundant articles, 39 manuscripts were given full review and included in this study, representing 2,807 patients with PD. Expert opinion Until definitive treatment becomes available, combinations of differing modalities may be the most viable option in addressing the unique concerns for each patient. Furthermore, the literature available varies widely in quality. There is a need for systematic definitions of the disease process as well as identifying treatment benchmarks that would maximize the patient quality of life.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1804861","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43166394","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

Assessing prognosis in cholangiocarcinoma: a review of promising genetic markers and imaging approaches 评估胆管癌的预后:有前途的遗传标记和影像学方法的综述

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-07-27 DOI: 10.1080/21678707.2020.1801410

F. Bagante, M. Tripepi, G. Spolverato, D. Tsilimigras, T. Pawlik

{"title":"Assessing prognosis in cholangiocarcinoma: a review of promising genetic markers and imaging approaches","authors":"F. Bagante, M. Tripepi, G. Spolverato, D. Tsilimigras, T. Pawlik","doi":"10.1080/21678707.2020.1801410","DOIUrl":"https://doi.org/10.1080/21678707.2020.1801410","url":null,"abstract":"ABSTRACT Introduction Despite the progress in the treatment of liver cancer, the prognosis of CCA remains poor and the surgical resection remains the only treatment with a potentially curative intent to date. Areas covered Advances in the knowledge of cholangiocarcinoma regarding the mutational status and radiological of the tumor have been reviewed searching the most updated papers using MEDLINE and EMBASE databases. Recent studies have investigated the mutational status and the imaging features of CCA patients in order to identify new factors correlated with the prognosis in CCA patients who underwent surgical resection. Moreover, the discovery of some gene mutations has led to the development of personalized therapy in CCA patients. Investigation of the mutational profile of CCA patients has been characterized by analysis of the incidence of single-gene mutations, patterns of gene mutations as well as the role of ncRNa alterations. Two innovative radiological sectors (radiomics and radiogenomics), investigating the associations between the imaging features and the molecular profiles, have contributed to knowledge of CCA biology. Expert opinion The analysis of the mutational profile and application of radiogenomics/radiomics represent promising fields in the identification of new targets toward a more personalized treatment approach for CCA patients.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1801410","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41814513","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

Outcomes in patients with spinal muscular atrophy given nusinersen, onasemnogene abeparvovec or no treatment: an analysis based on restricted mean survival time 脊髓性肌萎缩患者接受nusinersen、onaseminogene abeparvovec或不接受治疗的结果：基于限制平均生存时间的分析

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-07-27 DOI: 10.1080/21678707.2020.1802719

L. Bartoli, A. Messori

{"title":"Outcomes in patients with spinal muscular atrophy given nusinersen, onasemnogene abeparvovec or no treatment: an analysis based on restricted mean survival time","authors":"L. Bartoli, A. Messori","doi":"10.1080/21678707.2020.1802719","DOIUrl":"https://doi.org/10.1080/21678707.2020.1802719","url":null,"abstract":"ABSTRACT Objectives Spinal muscular atrophy (SMA) is a rare neuromuscular disorder. Currently there are two approved drug treatments for SMA: nusinersen and onasemnogene abeparvovec (OAX). The purpose of the present study was to analyze and compare the event-free survival observed in patients with infantile-onset of SMA receiving nusinersen, OAX or no treatment. The comparison was based on the restricted mean survival time (RMST). Methods The cohorts included in the analyses (nusinersen, 17 patients; OAX, 10 patients; no treatment, 23 patients) were obtained from a standard PubMed search. For each cohort, the values of RMST were determined from the Kaplan-Meier curves reported in these studies (end-point: death or need for permanent ventilation). The RMST was calculated using a model-independent method. Results The RMST of nusinersen at 33 months of follow up was 25.05 months (95%confidence interval [CI], 23.86 to 26.23) vs 13.90 (95%CI 12.73 to 15.06) for no treatment. The RMST of OAX at 57 months was 57.00 vs 18.32 (95%CI 16.89 to 19.76) for no treatment. Conclusion Our analyses defined a robust methodological framework to quantify the outcomes of these treatments. This study needs to be repeated after these treatments have achieved a longer follow-up than that presently available.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1802719","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46336556","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 knowledge for the microbiological diagnosis of Tropheryma whipplei infection 绒毛膜肥大细胞感染微生物学诊断的最新知识

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-07-02 DOI: 10.1080/21678707.2020.1791700

S. Edouard, L. Luciani, J. Lagier, D. Raoult

{"title":"Current knowledge for the microbiological diagnosis of Tropheryma whipplei infection","authors":"S. Edouard, L. Luciani, J. Lagier, D. Raoult","doi":"10.1080/21678707.2020.1791700","DOIUrl":"https://doi.org/10.1080/21678707.2020.1791700","url":null,"abstract":"ABSTRACT Introduction Whipple's disease is a rare clinical entity that is usually fatal if left untreated.Tropheryma whippleiwas first cultured 20 years ago, and has led to the development of diagnostic tools that have greatly improved knowledge of the disease. T. whipplei is actually more common than initially described with the description of common asymptomatic carriage. Areas covered We reviewed current knowledge of microbiological diagnosis and summarized the diagnostic strategy ofT. whipplei infection. Articles were selected from Medline and Google scholar using the keywords ‘Tropheryma whipplei’ OR ‘Whipple’s disease’ AND ‘diagnosis’. Expert opinion Definitive diagnosis of Whipple’s disease is challenging and continues to be based on immunohistochemical analysis or PAS staining combined with positive qPCR on duodenal biopsy. Initially, screening forT. whipplei was recommended on stool and saliva which are associated with a high positive predictive value of Whipple’s disease. However, given the presence of a large number of asymptomatic carriers, the specificity of a positive qPCR on these samples is likely to have decreased and their interests should be reevaluated. The development of new noninvasive tests may be useful for the diagnosis of Whipple’s disease and qPCR performed on urine could be a promising alternative.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1791700","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44974593","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

Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects mTORC1抑制剂在结节性硬化症相关神经系统方面的长期应用

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-07-02 DOI: 10.1080/21678707.2020.1789862

R. Moavero, P. Curatolo

{"title":"Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects","authors":"R. Moavero, P. Curatolo","doi":"10.1080/21678707.2020.1789862","DOIUrl":"https://doi.org/10.1080/21678707.2020.1789862","url":null,"abstract":"ABSTRACT Introduction Tuberous Sclerosis Complex (TSC) is an autosomal dominant disease caused by mutation in TSC1/2 genes, leading to the hyperactivation of the mammalian/mechanistic target of Rapamycin complex 1 (mTORC1) pathway. Until recently, treatment for TSC-related manifestations was merely symptomatic, but in the last years allosteric mTORC1 inhibitors, such as Everolimus, proved effective in managing several lesions and symptoms. Areas covered MedLine was performed focusing on years 2010-2020. Long-term studies show that Everolimus maintains its efficacy over time, and that benefits might appear for the first time even months after starting treatment. Tolerability profiles reveal no unexpected toxicity, with adverse events decreasing over time. Analysis of tolerability in younger children didn’t reveal any effect on growth and puberty. Expert opinion mTORC1 inhibitors offer a targeted and systemic approach to TSC, but exact timing of initiation still remains a major issue. Another gap to be filled is the duration of treatment, since manifestations might recur after withdrawal, and alternative dosage schemes might be proposed. mTORC1 inhibitors revolutionized the therapeutic paradigm in TSC, however there is still a long way to go, since a lot of questions still remain unanswered and future studies are necessary to find a better cure.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1789862","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41467628","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

Diagnostics and management approaches for Acanthamoeba keratitis 棘阿米巴角膜炎的诊断和治疗方法

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-07-02 DOI: 10.1080/21678707.2020.1791081

N. Szentmáry, Lei Shi, L. Daas, B. Seitz

{"title":"Diagnostics and management approaches for Acanthamoeba keratitis","authors":"N. Szentmáry, Lei Shi, L. Daas, B. Seitz","doi":"10.1080/21678707.2020.1791081","DOIUrl":"https://doi.org/10.1080/21678707.2020.1791081","url":null,"abstract":"ABSTRACT Introduction With less than 3 new cases per million people, Acanthamoeba keratitis (AK) is an orphan disease. It is a potentially devastating ocular infection without standardized guidelines for diagnostics and treatment. Areas covered A comprehensive Pubmed and Clinical Trial search has been performed to summarize current diagnostics and management approaches for AK before March 2020. Ophthalmologists must recognize its clinical signs, such as gray-dirty epithelium, pseudodendritiformic epitheliopathy, perineuritis, multifocal stromal infiltrates, and ring infiltrate for a timely adequate treatment. In later stages, scleritis, iris atrophy, anterior synechiae, secondary glaucoma, mature cataract, and chrorioretinitis are referred to as classical clinical signs. A clinical suspicion must be followed by laboratory diagnostics using confocal microscopy, polymerase-chain-reaction (PCR), microbiological culture, and/or histopathological examination. The first randomized clinical drug trial for the treatment of AK is planned to be completed in 2021. Expert opinion Up to date, as conservative treatment up to 1 year, triple-topical therapy (polyhexamethilen-biguanide, propamidine-isethionate, neomycin) and, in therapy-resistant cases, surgical treatment in form of corneal cryotherapy, riboflavin-UVA crosslinking and penetrating keratoplasty is used. In our opinion, a specific medical treatment should be clinically applied in the future, following isolation of the pathognomic Acanthamoeba strain, and after in vitro culturing and testing.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1791081","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44649788","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

Hematopoietic stem cell transplantation for Langerhans cell histiocytosis: clinical findings and long-term outcomes 造血干细胞移植治疗朗格汉斯细胞组织细胞增多症:临床发现和长期结果

IF 0.8 4区医学

Expert Opinion on Orphan Drugs Pub Date : 2020-06-24 DOI: 10.1080/21678707.2020.1778462

A. Morimoto, K. Kudo

{"title":"Hematopoietic stem cell transplantation for Langerhans cell histiocytosis: clinical findings and long-term outcomes","authors":"A. Morimoto, K. Kudo","doi":"10.1080/21678707.2020.1778462","DOIUrl":"https://doi.org/10.1080/21678707.2020.1778462","url":null,"abstract":"ABSTRACT Introduction Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia characterized by accumulation of bone marrow-derived immature dendritic cells harboring oncogenic mutations in mitogen-activated protein kinase (MAPK) pathway genes, such as BRAF V600E, and various reactive inflammatory cells. Infants with chemo-resistant multisystem disease with risk organ involvement [MS-RO(+)] have poor prognosis. Further, relapsed infants have a significant risk of developing disastrous neuro-degenerative central nervous system disease. Areas covered This review covers published papers on hematopoietic stem cell transplantation (HSCT) for LCH selected through a literature search on PubMed between years 1985 and 2019. Expert opinion: Infants with refractory MS-RO(+) disease or with frequent treatment-resistant relapses can benefit from allogeneic HSCT (allo-HSCT). Selection of an HLA-matched sibling or unrelated cord blood (UCB) stem cell source and use of reduced intensity conditioning (RIC) preparative regimens, based on the combination fludarabine with melphalan, are preferable. Most deaths after HSCT occur within 3 months, due to transplantation-related complications. LCH disease activity usually regresses over 3 months after allo-HSCT in survivors. The disease activity at HSCT is the most important prognostic factor. Prior to HSCT, the disease activity should be reduced by treatment.","PeriodicalId":12118,"journal":{"name":"Expert Opinion on Orphan Drugs","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2020-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21678707.2020.1778462","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48895795","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