2001 Workshop on Gene Therapies for Hemophilia

描述（由申请人提供）：血友病是一种遗传性血液疾病 凝血影响美国约17，000人。 血友病的两种最常见形式是血友病A和血友病B， 由凝血因子VIII和IX的缺陷或不足引起， 分别虽然治疗对许多血友病患者有效，但 包括终身静脉输注凝血因子 在出血事件期间或之后。这种疗法有许多缺点，因此， 基因治疗作为治疗血友病的一种手段已被研究。血友病 是最有可能接受基因治疗的遗传疾病之一 因为它是由单个基因的缺陷引起的。基因治疗 血友病将功能性凝血因子基因转移到细胞中， 血友病患者，使该个体的身体能够制造凝血 因子蛋白在临床前研究中取得了相当大的成功， 使用各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，其中两项使用病毒 载体;第三个是离体，非病毒研究。多家研究 问题仍然没有答案，促进该领域的进展的是 定期召开研讨会，研究人员可以讨论 他们的工作现状。国家血友病基金会提议 2001年4月19日至21日， 位于拉霍亚的索尔克生物研究所。加州。最后一 2000年3月的一个研讨会探讨了与免疫相关的一些问题， 对各种病毒载体和转基因的反应，以及一个特殊的预研讨会 首脑会议将重点讨论如何规避这种免疫反应。其他关切 包括鉴定转基因的最佳靶组织 表达;基因治疗再治疗的安全性;与基因治疗相关的风险 每一个载体系统;丙型肝炎和艾滋病毒感染和治疗的效果 基因治疗;以及使用人类受试者的伦理问题，包括 明确患者和医生的权利和责任。的 研讨会提供了一个非常重要的机会，开放的沟通和 基础研究人员、临床医生、联邦监管机构、代表 制药公司和出血性疾病社区的成员， 人类临床试验继续进行。

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.