Autonomic Rare Diseases Clinical Research Consortium

自主神经罕见疾病临床研究联盟

• 批准号: 8150403
• 负责人: DAVID HERLIE ROBERTSON
• 金额: $ 122.62万
• 依托单位: VANDERBILT UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-08-15 至 2014-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8150403
• 关键词: Autonomic; Rare; Diseases; Clinical; Research

DESCRIPTION (provided by applicant): Autonomic Rare Disease Clinical Research Consortium We propose an Autonomic RDCRC comprising NHLBI/NINDS-supported investigators at Vanderbilt, Mayo, New York University, Harvard, and the NINDS Intramural Program. If this RDCRC is awarded, we hope to expand to additional sites with leveraging funds. The 4 major support groups for autonomic disorders are also participants in the Consortium. Our objective is to study autonomic disorders so that we can develop novel therapies aimed not only at improving quality of life, but also altering the course of disease. This Autonomic RDCRC is multidisciplinary and draws strong support from our patients and their support organizations. Our strategy is to meet our goals through natural history studies, therapeutic trials, patient registries, and data/specimen banks. We will train physicians and scientists in the investigation and treatment of rare autonomic disorders. We will develop an Autonomic Disorders Web Site to enhance communication among patients, families, support groups and the general public. We focus initially on four rare and intractable autonomic disorders characterized by life-altering disability: (1) multiple system atrophy, MSA; (2) pure autonomic failure; (3) autoimmune autonomic gangljonopathy; and (4) hypovolemic postural tachycardia syndrome. Our proposed novel interventions include a norepinephrine transport blocker, a dopa decarboxylase antagonist, immunomodulatory therapy, a bionic baroreflex, and a potentially diseasearresting intervention in the uniformly fatal MSA. Several features of our Consortium will facilitate our ability to discover unique genetic or acquired pathophysiologies. Consortium members also have ongoing pathophysiologic and therapeutic studies, not described in this proposal, aimed at other rare autonomic disorders such as (1) familial dysautonomia (2) dopamine beta-hydroxylase deficiency, (3) baroreflex failure, and (4) norepinephrine transporter deficiency. The Consortium members believe that the Autonomic RDCRC will make a real difference in the lives of affected patients. PUBLIC HEALTH RELEVANCE: Autonomic disorders cause loss of regulation of the heart, blood vessels, stomach, bowel and bladder. Affected patients frequently have palpitations or lose consciousness, and some have a rapidly fatal course. The Autonomic Consortium proposes to join with patient support groups to harness the knowledge and energies of physicians and investigators in the major centers where these patients are cared for, so that they can discover ways to treat and to cure these diseases

描述（由申请人提供）：自主稀有疾病临床研究联盟 我们提出了一个自主rdcrc，其中包括NHLBI/NINDS支持的调查员，位于范德比尔特，梅奥，纽约大学，哈佛大学和Ninds内部计划。如果授予此RDCRC，我们希望将其扩展到具有利用资金的其他网站。自主疾病的4个主要支持小组也是该财团的参与者。我们的目标是研究自主疾病，以便我们可以开发出旨在改善生活质量的新型疗法，还可以改变疾病的进程。这种自主性RDCRC是多学科的，并为我们的患者及其支持组织提供了强有力的支持。我们的策略是通过自然史研究，治疗试验，患者注册和数据/标本库来实现我们的目标。我们将培训医生和科学家的调查和治疗罕见自主疾病。我们将开发一个自主疾病网站，以增强患者，家庭，支持小组和公众之间的沟通。我们最初专注于四种以改变生活的残疾为特征的罕见且顽固的自主疾病：（1）多系统萎缩，MSA； （2）纯粹的自主失败； （3）自动免疫性神经节病； （4）低血容量的姿势心动过速综合征。我们提出的新型干预措施包括去甲肾上腺素的转运阻滞剂，DOPA脱羧酶拮抗剂，免疫调节疗法，仿生性压力反射剂，以及在均匀致命的MSA中的潜在疾病。我们财团的几个特征将有助于我们发现独特的遗传或获得的病理生理学的能力。联盟成员还没有在此提案中进行的持续的病理生理和治疗研究，该研究针对其他罕见的自主疾病，例如（（1）家族性动作障碍（2）多巴胺β-羟化酶缺乏症，（（3）baroreflex衰竭，（3）Baroreflex失败，以及（4）无pipinepinepinepinephrine tosporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporporpingporporporporpingporporporporpingporporporporporingingings。财团成员认为，自主rdcrc将对受影响患者的生活产生真正的影响。公共卫生相关性：自主疾病导致心脏，血管，胃，肠和膀胱的调节丧失。受影响的患者经常患有呼吸症或失去知觉，有些患者有迅速致命的病程。该自主联盟建议与患者支持小组一起利用这些患者得到照顾的主要中心的医生和研究人员的知识和能量，以便他们可以发现治疗和治愈这些疾病的方法