UCRC SPECIAL CASE STUDY PROTOCOL

UCRC 特殊案例研究协议

• 批准号: 6281711
• 负责人: James T. Willerson
• 金额: $ 1.36万
• 依托单位: UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6281711
• 关键词: cardiovascular disorder; clinical research; human subject; patient /disease registry

The aim of this protocol is to provide the mechanism on the UCRC to assess in more detail the characteristics of patients who appear to have unique disease precesses, unique subsets of an already identified disease, unique responses to drug therapy, etc. Occasionally, the UCRC is called by a faculty member concerning a patient or family who appears to be unique. As a first step, it would be desirable to study such patients in a controlled environment such as that offered by the UCRC with a rigidly controlled diet, quantitative collection of urine and feces, and serial sampling of blood for a variety of determinations in either routine or special laboratories. Occasionally such patients can be "fit" into already approved protocols, but if they cannot, they can be entered into this special case study protocol. Through this protocol, preliminary information can be gained, and if it does indeed appear that the patient has unique characteristics and warrants further studies, the data generated can be used to develop subsequent protocols. An investigator wishing to utilize this protocol must submit to the UCRC and to the IRB a brief written description of the patient's unique characteristics, with a justification of the proposed use of the UCRC and procedures to be performed. This must be accompanied by a consent form. Approval from both the UCRC Program Director and the IRB must be obtained before the study can be conducted. It is anticipated that this protocol will be applicable to only a few patients or families within any given year. This year, the protocol was utilized by Dr. Dianna Milewicz, chief of the division of Medical Genetics. A man was brought to her attention because he has a lifelong bleeding disorder and abnormal coagulation studies. The patient's disorder did not fit any recognized coagulation abnormalities. Laboratory studies of this patient and his family led to the hypothesis that the unique bleeding disorder is due to a novel antithrombin III gene (ATIII) mutation that causes antithrombin III to be constitutively active in the absence of heparin binding, i.e., a gain-of-function mutation leading to an overly active antithrombin III. No other gain-of-function mutations in ATIII have been described. This hypothesis is being tested by sequencing the ATIII gene using DNA from affected family members.

该协议的目的是提供UCRC上的机制来评估 更详细地详细说明似乎具有独特的患者的特征 疾病进攻，已经鉴定出的疾病的独特子集，独特的 对药物疗法的反应等。有时，UCRC被A调用 关于似乎是独一无二的患者或家庭的教师。 作为第一步，希望在A中研究此类患者 诸如UCRC提供的受控环境， 受控饮食，尿液和粪便的定量收集以及系列 在常规或 特殊实验室。 有时，此类患者可以“适合” 已经批准的协议，但是如果不能，可以将其输入 该特殊案例研究方案。 通过此协议，初步 可以获得信息，如果确实看来病人 具有独特的特征并保证进一步研究，数据 生成的可用于开发后续协议。 调查员 希望使用此协议必须提交给UCRC和IRB a 对患者的独特特征的简要说明， 拟议使用UCRC和程序的理由是 执行。 这必须伴随同意书。 批准 UCRC计划主管和IRB都必须在 可以进行研究。预计该协议将是 在任何给定年份内仅适用于少数患者或家庭。 今年，该协议由戴安娜·米莱维奇（Dianna Milewicz）博士使用 医学遗传学司。一个男人引起了她的注意，因为 他患有终生出血障碍和异常凝血研究。 这 患者疾病不适合任何公认的凝血异常。 该患者及其家人的实验室研究提出了假设 独特的出血障碍是由于一种新颖的抗凝血酶III基因 （ATIII）突变导致抗凝血酶III具有组成性活性 在没有肝素结合的情况下，即功能奖励突变 导致过度活跃的抗凝血酶III。 没有其他功能 已经描述了atiii中的突变。 该假设正在检验 通过使用受影响家庭成员的DNA对ATIII基因进行测序。