Rare disease and orphan drugs journal最新文献_第4页

Pathogenesis of autoimmune and hereditary pancreatitis with a focus on neutrophil granulocytes and neutrophil serine proteases 自身免疫性和遗传性胰腺炎的发病机制，重点是中性粒细胞和中性粒细胞丝氨酸蛋白酶

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2022.17

Lukas Zierke, Marcel Gischke, Q. Tran, A. Aghdassi

引用次数: 0

Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force 罕见病药物再利用的可持续方法:来自IRDiRC工作组的建议

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2023.04

G. Zanello, D. Ardigò, Florence Guillot, A. Jonker, Oxana Iliach, H. Nabarette, Daniel O’Connor, V. Hivert

{"title":"Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force","authors":"G. Zanello, D. Ardigò, Florence Guillot, A. Jonker, Oxana Iliach, H. Nabarette, Daniel O’Connor, V. Hivert","doi":"10.20517/rdodj.2023.04","DOIUrl":"https://doi.org/10.20517/rdodj.2023.04","url":null,"abstract":"Drug repurposing represents a real opportunity to address unmet needs and improve the lives of rare disease patients. It is often presented as a faster, safer and cheaper path for bringing drugs into new indications. However, several economic, regulatory and scientific barriers can impede the successful repurposing of drugs for rare diseases. The International Rare Diseases Research Consortium (IRDiRC) set up the Task Force on Sustainable Models in Drug Repurposing with the objective of identifying key factors for achieving sustainable repurposing approaches in rare diseases. In order to help inform expert opinion, the Task Force investigated six cases of medicinal products repurposed into new rare indications and four cases of ongoing development programs. A questionnaire addressing the major steps of the repurposing approach was developed by the Task Force and sent to contact points of the organizations. In addition, interviews were conducted with the relevant organization representatives to conduct a deeper dive into the sustainability of the repurposing approach for each of the selected cases. Based on the collective experience of the members of the Task Force and the output from the questionnaires/interviews, we have identified ten key factors that should be considered by those embarking on repurposing projects. These factors include the identification of unmet patient needs and partnership with patients, collection of evidence concerning disease prevalence, patient numbers, drug pharmacology and disease etiology, drug industrial property status, off-label or compounding use, data from past clinical studies and needs for extended non-clinical and clinical studies. The development of a collaborative funding framework and early discussion with regulators and payers are additional factors to implement early in the development of sustainable drug repurposing projects.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659655","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}

引用次数: 0

Connecting academia and industry for innovative drug repurposing in rare diseases: it is worth a try 将学术界和工业界联系起来，重新利用罕见疾病的创新药物:值得一试

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2023.06

C. Fétro

引用次数: 2

Histological and biochemical methods to assess aminoacyl-tRNA synthetase expression in human post-mortem brain tissue 用组织学和生化方法评估人死后脑组织中氨基酰基trna合成酶的表达

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2023.05

M. Klugmann, Alexandra K. Suchowerska, G. Housley, Dominik Fröhlich

引用次数: 0

Biallelic cubilin pathogenic variants as a cause of « benign » proteinuria: implications for clinical management 双等位cubilin致病变异作为“良性”蛋白尿的原因:对临床管理的影响

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2022.23

V. Gillion, K. Dahan, N. Godefroid

引用次数: 0

Immune cell-derived serine protease as pathogenic drivers of vascular remodeling in pulmonary arterial hypertension 免疫细胞来源的丝氨酸蛋白酶是肺动脉高压血管重构的致病驱动因素

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2022.20

Izabela Borek, G. Kwapiszewska

引用次数: 0

Coenzyme Q10, Vitamin E and Polyvitamin B: an exploratory double-blind randomized cross-over study in Phelan-McDermid Syndrome 辅酶Q10，维生素E和多维生素B:费伦-麦克德米综合征的探索性双盲随机交叉研究

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2023.08

A. Persico, A. Ricciardello, F. Cucinotta, L. Turriziani, G. Calabrese, P. Tomaiuolo, T. Di Bella, F. Bellomo, M. Boncoddo, G. Turturo, S. Mirabelli, Lisa Asta, F. Banchelli, Riccardo Cuoghi Costantini, Roberto D’amico

{"title":"Coenzyme Q10, Vitamin E and Polyvitamin B: an exploratory double-blind randomized cross-over study in Phelan-McDermid Syndrome","authors":"A. Persico, A. Ricciardello, F. Cucinotta, L. Turriziani, G. Calabrese, P. Tomaiuolo, T. Di Bella, F. Bellomo, M. Boncoddo, G. Turturo, S. Mirabelli, Lisa Asta, F. Banchelli, Riccardo Cuoghi Costantini, Roberto D’amico","doi":"10.20517/rdodj.2023.08","DOIUrl":"https://doi.org/10.20517/rdodj.2023.08","url":null,"abstract":"Aim: Defective mitochondrial function and increased oxidative stress have been documented in Autism Spectrum Disorder (ASD) and Phelan-McDermid syndrome (PMS), one of the best-known monogenic forms of ASD. The purpose of this exploratory, double-blind, randomized cross-over trial (RCT) is to verify the efficacy and safety of a “metabolic support therapy” (MST) in PMS, while defining the experimental methodology most apt at maximizing sensitivity and reliability. Methods: A total of 31 PMS patients completed 4 months of Coenzyme Q10 (50/100 mg b.i.d.) + vitamin E (30/60 mg/d) + polyvitamin B (\"active compound\") vs. 4 months of only Vitamins E and B (\"active comparator\"). To explore their sensitivity and reliability, four primary outcome measures were used: VABS, CARS, CGI-I, and VAS. Secondary outcome measures span adaptive behaviors, social cognition, autism, problem behaviors, quality of life (QoL), communication, and comorbidities. Results: CoQ10+vit. E and B yielded significantly greater improvement in several measures of cognition and adaptive functioning, motor skills, and stereotypic behaviors compared to vit. E and B only. Maternal QoL was especially improved in the presence of CoQ10 (P < 0.004). Time x Treatment interactions in CGI-I and VAS \"restricted interests\" scores support positive contributions also by vitamins E and B. Side effects, including hyperactivity, insomnia, and irritability, were mild, rare, and did not differ between treatment periods. Conclusion: MST may produce small-to-moderate improvement, especially in motor skills, social motivation, adaptive behaviors, responsiveness to environmental stimulation, and stereotypic behaviors in up to approximately 70% of PMS patients. A targeted confirmatory RCT contrasting Q10+vit E and B vs. inactive placebo is now warranted.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67659782","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}

引用次数: 0

Elastase-dependent congenital neutropenia 弹性酶依赖性先天性中性粒细胞减少症

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2022.12

Angelika Mazur, J. Skrzeczynska-Moncznik, P. Majewski, J. Cichy

引用次数: 0

RNA antisense and silencing strategies using synthetic drugs for rare muscular and neuromuscular diseases 利用合成药物治疗罕见肌肉和神经肌肉疾病的RNA反义和沉默策略

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2023.01

D. Scherman

引用次数: 0

Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry. 特纳综合征的健康差异:UTHealth特纳综合征研究注册。

Rare disease and orphan drugs journal Pub Date : 2023-01-01 DOI: 10.20517/rdodj.2023.02

Priscille Donate, Michelle Rivera-Davila, Siddharth K Prakash

{"title":"Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry.","authors":"Priscille Donate, Michelle Rivera-Davila, Siddharth K Prakash","doi":"10.20517/rdodj.2023.02","DOIUrl":"https://doi.org/10.20517/rdodj.2023.02","url":null,"abstract":"Aim: Turner Syndrome (TS) is caused by partial or complete absence of the second sex chromosome in a phenotypic female. TS is associated with recognizable congenital anomalies and chronic health conditions. The principal objective of this study was to evaluate the health-related knowledge and insight of participants.Methods: In 2015, we founded the UTHealth Turner Syndrome Research Registry for longitudinal follow-up of individuals with TS. Study participants were recruited from UTHealth Houston clinics and the Turner Syndrome Society of the United States. Participants completed a questionnaire about demographics, karyotype, congenital anomalies, health history, frequency of contact with care providers, and knowledge of care providers about TS.Results: Forty percent of registry participants indicated that they did not know their karyotypes. Knowledge of karyotype, which can predict clinical outcomes in TS, markedly varied by self-reported race and ethnicity but not by age. Participants also reported significant gaps in routine medical and gynecologic care.Conclusion: We identified knowledge gaps and health disparities that could benefit from improved provider and patient education.","PeriodicalId":74638,"journal":{"name":"Rare disease and orphan drugs journal","volume":"2 1","pages":"4"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10398636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9941926","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}

引用次数: 0