Clinical Research Consortium for Spinocerebellar Ataxias

脊髓小脑性共济失调临床研究联盟

• 批准号: 7839369
• 负责人: TETSUO ASHIZAWA
• 金额: $ 50万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2011-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7839369
• 关键词: Address; Age; Age of Onset; Agonist; Agriculture; Apolipoprotein E; Area; Ataxia; Biological Markers; Cessation of life; Characteristics; Clinical; Clinical Data; Clinical Protocols; Clinical Research; Clinical Treatment; Clinical Trials; DNA; Data; Databases; Diagnosis; Disease; Family; Family Caregiver; Florida; Food; Foundations; Funding; Funding Agency; Future; Genes; Genetic; Goals; Government Officials; Health Personnel; Home environment; Industry; Inherited; Institutes; Institution; Measures; Medical; Mutation; National Institute of Neurological Disorders and Stroke; Natural History; Nicotine Withdrawal; Nicotinic Receptors; Occupations; Online Systems; Onset of illness; Oral; Outcome; Patients; Pharmaceutical Preparations; Phase; Physicians; Pilot Projects; Prevalence; Qualifying; Randomized; Rare Diseases; Recruitment Activity; Research; Research Ethics Committees; Research Infrastructure; Research Institute; Research Personnel; Research Project Grants; Safety; Sampling; Science; Scientist; Spinocerebellar Ataxias; Statistical Data Interpretation; Technology; Testing; Therapeutic Intervention; Time; Translational Research; Trinucleotide Repeats; Type 1 Spinocerebellar Ataxia; United States; United States National Institutes of Health; Universities; Withdrawal Symptom; base; cohort; computerized; disability; double-blind placebo controlled trial; multidisciplinary; nervous system disorder; novel; outreach; patient registry; polyglutamine; programs; public health relevance; safety testing; smoking cessation; sound; varenicline

DESCRIPTION (provided by applicant): This application addresses Broad Challenge Area (04) Clinical Research, and specific Challenge Topics, 04-NS-103 Developing consortia for clinical research, and is also, in part, relevant to 07-OD(ORDR)-102* Rare disease genetic patient registry. The University of Florida contributes substantially to the local and regional economy. In 2008, UF created 2,525 jobs and recent studies have shown that UF contributes nearly $6 billion annually to Florida's economy. The university employs about 34,000 people directly on its main campus and via UF organizations, such as the Institute of Food and Agricultural Sciences, is responsible for the creation of 74,894 jobs statewide. The current application will create or retain 19 jobs. The goal of this application is to establish a new multidisciplinary consortium that provides the infrastructure for future clinical trials to test safety and efficacy of therapeutic interventions for ataxic disorders. We will focus on autosomal dominant spinocerebellar ataxia (SCA) 1, 2, 3 and 6, whose pathogenic mechanisms are becoming increasingly clear. To achieve this goal we will establish a well-coordinated nationwide network of physician scientists with expertise in clinical ataxia research, and integrate patient support organizations, funding agencies and the industry into the consortium, which will be called the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA). The long-term goal of the CRC-SCA is to gain a capability of launching major clinical trials for treatment of ataxia, based on extensive natural history data, large cohort of patients from a patient registries, validated rating scales with increased sensitivity to accurately detect small changes of clinically meaningful outcomes, useful biomarkers, and sound capability to perform statistical data analysis. In addition, it will educate patients, families, caregivers, healthcare providers, government officials and the public about the progress in research toward therapeutic interventions, by taking full advantage of web-based technology. Our Specific Aims are to: Aim 1. Establish the organizational foundations for the CRC-SCA Aim 2. Recruit patients and obtain longitudinal clinical data for future clinical trials Aim 3. Initiate a pilot study to determine genetic modifiers of SCA 1, 2, 3 and 6 Aim 4. Conduct a pilot phase I/II randomized double-blind placebo control trial for safety and tolerability of varenicline in SCA patients. The CRC-SCA takes advantage of a currently existing clinical research group, which involves 8 institutions from the United States, to establish a multidisciplinary network, and integrate the National Ataxia Foundation (NAF), Bob Allison Ataxia Research Center (BAARC), NINDS, and the industry (Medical Marveric) to accomplish these Specific Aims. We will also utilize NIH- funded Clinical and Translational Research Institutes and General Clinical Research Centers for our project. While two years will not be sufficient to achieve our long-term goal, accomplishing these Specific Aims will allow the CRC-SCA to create the machinery to do so. Thus, the CRC- SCA represents a current critical need for clinical and translational research in the field of ataxia. PUBLIC HEALTH RELEVANCE: Spinocerebellar ataxias (SCAs) are inherited neurological diseases which relentlessly worsen over time, leading to severe disability or death. We will focus on four subtypes of SCAs, SCA 1, 2, 3 and 6, in which investigators have made major advances in understanding the disease mechanisms and started contemplating novel treatments. We will establish a clinical research consortium for SCA (CRC-SCA), which will provide multidisciplinary infrastructure to bring these novel treatment ideas to bedside.

描述（由申请人提供）：此申请涉及广泛的挑战领域（04）临床研究以及特定的挑战主题，04-NS-103开发用于临床研究的财团，也部分与07-OD（ORDR）-102*稀有疾病遗传患者登记有关。佛罗里达大学为地方和地区经济做出了重大贡献。 2008年，UF创造了2,525个就业机会，最近的研究表明，UF每年为佛罗里达州的经济贡献近60亿美元。该大学直接在其主要校园内和通过UF组织（例如食品和农业科学研究所）雇用约34,000名员工，负责全州创建74,894个职位。当前的应用程序将创建或保留19个作业。该应用程序的目的是建立一个新的多学科财团，该联盟为未来的临床试验提供基础设施，以测试性能疾病的治疗干预措施的安全性和功效。我们将重点关注常染色体显性脊髓性共济失调（SCA）1、2、3和6，其致病机制变得越来越清晰。为了实现这一目标，我们将建立一个在临床共济失调研究方面具有专业知识的医师科学家协调良好的全国性网络，并将患者支持组织，资助机构和行业整合到财团中，该联盟将被称为Spinocerebellar Hataxias（CRC-SCA）的临床研究联盟。 CRC-SCA的长期目标是基于广泛的自然历史数据，大量的患者注册表的患者群体，具有验证的评级量表，具有提高敏感性以准确检测到临床意义有意义的临床有意义的变化，有用的生物标志物和有用的生物标志物和统计数据分析的能力。此外，它将通过充分利用基于Web的技术来教育患者，家庭，护理人员，医疗保健提供者，政府官员和公众对治疗干预的研究进展。我们的具体目的是：目标1。建立CRC-SCA目标的组织基础2。招募患者并获得未来临床试验的纵向临床数据目标3。启动一项试点研究，以确定SCA 1、2、2、3和6目标的遗传修饰符。 CRC-SCA利用了当前现有的临床研究小组，该小组涉及来自美国的8个机构，建立一个多学科网络，并整合国家共济失调基金会（NAF），鲍勃·艾里森（NAF），鲍勃·艾里森（NAF），鲍勃·艾里森（Bob Allison Ataxia）研究中心（BAARC），NINDS和行业（MADICAL MARVERIC）以实现这些特定的目标。我们还将利用NIH资助的临床和转化研究机构以及我们项目的一般临床研究中心。虽然两年不足以实现我们的长期目标，但实现这些特定目标将使CRC-SCA能够创建机械。因此，CRC-SCA代表了目前在共济失调领域对临床和转化研究的关键需求。 公共卫生相关性：脊椎小脑共济失调（SCAS）是遗传性的神经系统疾病，随着时间的流逝，无情地恶化，导致严重的残疾或死亡。我们将专注于SCA，SCA 1、2、3和6的四个亚型，其中研究人员在理解疾病机制并开始考虑新的治疗方法方面取得了重大进展。我们将建立一个SCA（CRC-SCA）的临床研究联盟，该联盟将提供多学科的基础设施，以使这些新颖的治疗思想到达床边。