CORE--PATIENT CARE

核心——患者护理

• 批准号: 6100651
• 负责人: ALFRED T LANE
• 金额: $ 28.26万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-07-01 至 2000-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6100651
• 关键词: autologous transplantation; biomedical facility; cell transplantation; clinical research; epidermolysis bullosa; gene therapy; human subject; keratinocyte; patient /disease registry; patient care management; tissue resource /registry

The overall aim of Core A will be to provide an interface between the laboratory and the clinic by coordinating transfer of information and technology focused initially on cutaneous gene therapy of patients with Recessive Junctional EB, with the long term objective of providing gene therapy to Dominant forms of EB. The principal goals of Core A are to; a) provide a better therapy for JEB and, b) test the feasibility of gene therapy in a model whereby unambiguous success is readily identifiable by relatively noninvasive procedures. We will continue our work of patient recruitment with an emphasis on providing a molecular diagnosis and genetic counseling for patients with JEB. Accession of JEB skin samples for keratinocyte expansion and xenografting on SCID mice will provide our investigative effects wit a pool of potential candidates for therapeutic skin grafting. We will provide JEB patients that carry specific genetic defects (null alleles) with a wild type copy of the therapeutic gene by ex vivo gene therapy techniques of engineered keratinocyte autografting, liposome andparticle-mediated gene transfer techniques. This core will be responsible for allaspects of patient care, from recruitment to post-treatment follow-up, including treatment, short term post-treatment monitoring, testing of phenotypic and genotypic reversion and long term follow-up of treatment sites.

Core A 的总体目标是提供一个接口 实验室和诊所通过协调转移 信息和技术最初专注于皮肤基因 隐性交界性 EB 患者的治疗 为主要形式提供基因治疗的长期目标 EB。 核心 A 的主要目标是： a) 提供更好的 JEB 治疗，b) 测试基因治疗的可行性 明确的成功很容易通过以下方式识别的模型 相对无创的手术。 我们将继续我们的工作 患者招募，重点是提供分子 JEB 患者的诊断和遗传咨询。 加入 用于角质形成细胞扩增和异种移植的 JEB 皮肤样本 对 SCID 小鼠的研究将为我们提供一系列的研究效果 治疗性皮肤移植的潜在候选者。 我们将提供 携带特定遗传缺陷（无效等位基因）的 JEB 患者 通过离体基因治疗获得治疗基因的野生型拷贝 工程化角质形成细胞自体移植技术、脂质体技术 和粒子介导的基因转移技术。 这个核心将是 负责患者护理的各个方面，从招募到 治疗后随访，包括治疗、短期 治疗后监测、表型和基因型测试 治疗部位的逆转和长期随访。