Autonomic Rare Diseases Clinical Research Consortium

自主神经罕见疾病临床研究联盟

• 批准号: 8136818
• 负责人: DAVID HERLIE ROBERTSON
• 金额: $ 13.95万
• 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/8136818
• 关键词: Clinical Research; Rare Diseases

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）：自主神经罕见病临床研究联盟 我们提出了一个自主 RDCRC，由范德比尔特大学、梅奥大学、纽约大学、哈佛大学和 NINDS 校内项目的 NHLBI/NINDS 支持的研究人员组成。如果该 RDCRC 获得批准，我们希望利用资金扩展到更多站点。自主神经失调的 4 个主要支持团体也是该联盟的参与者。我们的目标是研究自主神经紊乱，以便我们能够开发新的疗法，不仅旨在提高生活质量，而且旨在改变病程。这个自主 RDCRC 是多学科的，得到了​​我们的患者及其支持组织的大力支持。我们的策略是通过自然历史研究、治疗试验、患者登记和数据/样本库来实现我们的目标。我们将培训医生和科学家研究和治疗罕见的自主神经疾病。我们将开发一个自主神经疾病网站，以加强患者、家属、支持团体和公众之间的沟通。我们首先关注四种罕见且难治的自主神经疾病，其特征是改变生活的残疾：（1）多系统萎缩，MSA； (2) 纯粹的自主神经衰竭； (3)自身免疫性自主神经节病； (4)低血容量体位性心动过速综合征。我们提出的新型干预措施包括去甲肾上腺素转运阻滞剂、多巴脱羧酶拮抗剂、免疫调节疗法、仿生压力感受反射以及针对一致致命的 MSA 的潜在疾病抑制干预措施。我们联盟的几个特点将有助于我们发现独特的遗传或后天病理生理学的能力。联盟成员还正在进行本提案中未描述的病理生理学和治疗研究，旨在针对其他罕见的自主神经疾病，例如（1）家族自主神经功能障碍（2）多巴胺β-羟化酶缺乏症，（3）压力感受反射衰竭和（4）去甲肾上腺素转运蛋白不足。联盟成员相信，Autonomic RDCRC 将为受影响患者的生活带来真正的改变。公共卫生相关性：自主神经紊乱会导致心脏、血管、胃、肠和膀胱失去调节。受影响的患者经常出现心悸或失去意识，有些患者会迅速死亡。自主联盟建议与患者支持团体合作，利用照顾这些患者的主要中心的医生和研究人员的知识和精力，以便他们能够发现治疗和治愈这些疾病的方法