Pilot/Demonstration Clinical Research Projects Program

试点/示范临床研究项目计划

• 批准号: 8858726
• 负责人: MARK L. BATSHAW
• 金额: $ 5万
• 依托单位: CHILDREN'S RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-08-25 至 2019-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8858726
• 关键词: Acids; Ammonia; Biological Assay; Biological Markers; Clinical; Clinical Research; Clinical Trials; Controlled Clinical Trials; Data; Development; Diagnosis; Disease; Double-Blind Method; Early Diagnosis; Family; Funding; Goals; Grant; Intestines; Investigational Drugs; Laboratories; Lead; Longitudinal Studies; Methods; Morbidity - disease rate; Mutation; Neonatal Screening; Outcome; Patient Outcomes Assessments; Patients; Pilot Projects; Placebo Control; Prevention; Production; Protocols documentation; Rare Diseases; Registries; Research Personnel; Research Project Grants; Signs and Symptoms; Testing; Therapeutic Intervention; Urease; cost; data mining; innovation; instrument; novel; novel therapeutic intervention; programs; response; treatment trial; urea cycle; web site

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.

UCDC 试点/示范临床研究计划的主要目的是为创新想法或假设的研究提供资金，如果成功，最终可能会改善 UCD 的预防、诊断和/或治疗。我们提出了三个试点项目，这些项目是从 UCDC 调查人员根据我们的内部 RFA 提交的 13 个项目和 DMCC 的一个项目中选出的。第一个项目将对一种研究药物（乙酰氧肟酸）进行一项小型双盲安慰剂对照临床试验，旨在阻断肠道菌群中的脲酶活性，目的是减少肠道氨产生，以减少近端 UCD 患者的氨负荷。第二个项目建议开发一种 NEXTGEN 测序方法来识别三种近端 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这些疾病筛查的二级测试。第三个项目建议扩大 UCDC 当前的联系登记册，以使用 PROMISE 网站从注册者那里获取患者报告的尿素循环相关体征和症状的结果，并验证治疗设置的数据并评估 UCDC 十年来治疗的变化程序。