Pilot/Demonstration Clinical Research Projects Program

UCDC试点/示范临床研究计划的主要目的是为创新思想或假设的研究提供资金，如果成功，最终可能导致UCD的预防，诊断和/或治疗的改善。我们提出了三个试点项目，这些项目是从UCDC调查人员提交给我们内部RFA的13个项目中选出的，其中一个来自DMCC。第一个项目将进行一项小型双盲安慰剂对照临床试验，研究药物（乙酰异羟肟酸）旨在阻断肠道植物群中的尿素酶活性，目的是减少肠道氨的产生，以降低近端UCD患者的氨负荷。第二个项目提出开发NEXTGEN测序方法，以识别三个近端UCD（NAGSD，CPSI D，OTCD）中的突变，长期目标是使用该方法作为扩大新生儿筛查这些疾病的第二层测试。第三个项目建议扩展UCDC的当前联系登记，以使用PROMISE网站从登记者获得尿素循环相关体征和症状的患者报告结果，并验证治疗设置数据，并评估UCDC计划十年来的治疗变化。

The principal aim of the UCDC pilot/demonstration clinical research program is to provide funding for studies of innovative ideas or hypotheses which, if successful, could ultimately lead to improvement in the prevention, diagnosis and/or treatment of UCD. We propose three pilot projects that were selected from 13 projects submitted in response to our internal RFA by UCDC investigators and one from the DMCC. The first project will conduct a small double blind placebo controlled clinical trial of an investigational drug (acetohydroxamic acid) aimed to block urease activity in the intestinal flora, with the goal of reducing intestinal ammonia production to reduce ammonia load in patients with proximal UCD. The second project proposes to develop a NEXTGEN sequencing methods to identify mutations in the three proximal UCD (NAGSD, CPSI D, OTCD) with the long-term goal of using this method as a second-tier test for expanded newborn screening for these disorders. The third project proposes to expand the current contact registry of the UCDC to obtain patient reported outcomes from registrants on urea cycle relevant sign and symptoms using the PROMISE web site and validate data on treatment setting and assess changes in treatments over the ten years of the UCDC program.