Autonomic Rare Diseases Clinical Research Consortium

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包括NHLBI/NINDS支持的研究人员在范德比尔特，马约，纽约大学，哈佛，和NINDS校内计划。如果这个RDCRC被授予，我们希望扩大到更多的网站与杠杆资金。4个主要的自主神经紊乱支持团体也是该联盟的参与者。我们的目标是研究植物神经紊乱，这样我们就可以开发新的治疗方法，不仅旨在改善生活质量，而且还可以改变疾病的进程。这个自主RDCRC是多学科的，并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史研究、治疗试验、患者登记和数据/标本库来实现我们的目标。我们将培训医生和科学家研究和治疗罕见的自主神经紊乱。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的顽固性自主神经疾病，其特征是改变生活的残疾：（1）多系统萎缩，MSA;（2）纯自主神经功能衰竭;（3）自身免疫性自主神经节病;（4）低血容量性姿势性心动过速综合征。我们提出的新的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，免疫调节治疗，仿生压力反射，和潜在的diseasearresting干预一致致命的MSA。我们联盟的几个特点将有助于我们发现独特的遗传或获得性病理生理学的能力。联盟成员也正在进行病理生理学和治疗研究，未在本提案中描述，针对其他罕见的自主神经疾病，如（1）家族性自主神经功能障碍（2）多巴胺β-羟化酶缺乏症，（3）压力反射衰竭，（4）去甲肾上腺素转运蛋白缺乏症。联盟成员相信自主RDCRC将使受影响患者的生活发生真实的变化。公共卫生相关性：自主神经紊乱导致心脏、血管、胃、肠和膀胱的调节功能丧失。受影响的患者经常有心悸或失去知觉，有些人有一个快速致命的过程。自治联盟建议与患者支持团体合作，利用这些患者所在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。

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