2001 Workshop on Gene Therapies for Hemophilia

描述(申请人提供)：血友病是一种遗传性血液疾病 凝血作用在美国影响了大约17,000人。 血友病最常见的两种形式是血友病A和血友病B， 由凝血因子VIII和IX的缺陷或缺陷引起， 分别进行了分析。虽然治疗对许多血友病患者有效，但它 由终生静脉输液和凝血因子组成 在流血事件中或之后。这种疗法有很多缺点，因此 基因治疗已被研究为治疗血友病的一种手段。血友病 是最有可能接受基因治疗的遗传性疾病之一 因为它是由单基因内的缺陷造成的。基因治疗 血友病会将起作用的凝血因子基因转移到细胞中 血友病患者，使他的身体能够制造凝血 蛋白质因子。临床前研究在以下方面取得了相当大的成功 利用多种病毒载体获得凝血因子的持续表达 在动物身上。目前正在进行三项人体试验，其中两项使用了病毒 载体；第三个是体外非病毒研究。多项研究 问题仍然没有得到回答，这一领域的进展是由 定期召开研讨会，调查人员可以在研讨会上讨论 他们的工作现状。国家血友病基金会建议 于二零零一年四月十九日至二十一日在 位于拉荷亚的索尔克生物研究所。加利福尼亚。最后 2000年3月的研讨会探讨了与免疫有关的一些问题 对各种病毒载体和转基因的反应，以及一个特别的前期研讨会 峰会将专注于规避这种免疫反应。其他顾虑 要解决的问题包括确定最佳转基因目标组织 表达；基因治疗再治疗的安全性；与 每个载体系统；丙型肝炎和艾滋病毒感染和治疗的影响 关于基因治疗；以及在使用人类受试者方面的伦理问题，包括 明确病人和医生的权利和责任。这个 研讨会提供了一个开放沟通和 基础研究人员、临床医生、联邦监管机构、代表之间的辩论 制药公司和出血性疾病社区的成员 人体临床试验仍在继续。

DESCRIPTION (provided by applicant): Hemophilia is a genetic disorder of blood coagulation affecting approximately 17,000 individuals in the United States. The two most common forms of hemophilia are hemophilia A and hemophilia B, caused by defects or deficiencies in clotting factors VIII and IX, respectively. While treatment is effective for many people with hemophilia, it consists of life-long, intravenous infusions with clotting factor administered during or after a bleeding event. This therapy has many drawbacks, and thus gene therapy has been investigated as a means of curing hemophilia. Hemophilia is among those genetic disorders most likely to be amenable to gene therapy because it results from defects within single genes. Gene therapy for hemophilia would transfer functioning clotting factor genes into cells in a person with hemophilia, enabling that individual's body to manufacture clotting factor proteins. There has been considerable success in pre-clinical studies in using various viral vectors to obtain sustained expression of clotting factor in animals. Three human trials are now underway, two of which employ viral vectors; the third is an ex vivo, nonviral study. A number of research questions remain unanswered, and progress in the field is facilitated by holding regulaily-convened workshops where investigators can discuss the current state of their work. The National Hemophilia Foundation proposes to hold another in a series of gene therapy workshops April 19-21, 2001 at The Salk Institute for Biological Studies in La Jolla. California. The last workshop in March of 2000 looked at a number of questions related to immune responses to various viral vectors and transgenes, and a special pre-workshop summit will focus on the circumvention of such immune responses. Other concerns to be addressed include identification of the best target tissues for transgene expression; the safety of gene therapy retreatment; the risks associated with each vector system; the effect of hepatitis C and HIV infection and treatment on gene therapy; and ethical concerns in the use of human subjects, including clarification of patient and physician rights and responsibilities. The workshop affords a critically important opportunity for open communication and debate among basic researchers, clinicians, federal regulators, representatives of pharmaceutical companies, and members of the bleeding disorders community as human clinical trials proceed.