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

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZRG1-HOP-Y (50))
Program Officer
Sieber, Beth-Anne
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Vanderbilt University Medical Center
Internal Medicine/Medicine
Schools of Medicine
United States
Zip Code
Loavenbruck, A; Iturrino, J; Singer, W et al. (2015) Disturbances of gastrointestinal transit and autonomic functions in postural orthostatic tachycardia syndrome. Neurogastroenterol Motil 27:92-8
Palma, Jose-Alberto; Kaufmann, Horacio (2015) Novel therapeutic approaches in multiple system atrophy. Clin Auton Res 25:37-45
Piccione, Ezequiel A; Sletten, David M; Staff, Nathan P et al. (2015) Autonomic system and amyotrophic lateral sclerosis. Muscle Nerve 51:676-9
Figueroa, Juan J; Bott-Kitslaar, Darlene M; Mercado, Joaquin A et al. (2014) Decreased orthostatic adrenergic reactivity in non-dipping postural tachycardia syndrome. Auton Neurosci 185:107-11
Mai, Tu H; Wu, Jing; Diedrich, André et al. (2014) Calcitonin gene-related peptide (CGRP) in autonomic cardiovascular regulation and vascular structure. J Am Soc Hypertens 8:286-96
Macefield, Vaughan G; Norcliffe-Kaufmann, Lucy; Löken, Line et al. (2014) Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III. Int J Psychophysiol 93:56-61
Gamboa, Alfredo; Okamoto, Luis E; Arnold, Amy C et al. (2014) Autonomic blockade improves insulin sensitivity in obese subjects. Hypertension 64:867-74
Ramirez, Claudia E; Okamoto, Luis E; Arnold, Amy C et al. (2014) Efficacy of atomoxetine versus midodrine for the treatment of orthostatic hypotension in autonomic failure. Hypertension 64:1235-40
Wada, Naoki; Singer, Wolfgang; Gehrking, Tonette L et al. (2014) Comparison of baroreflex sensitivity with a fall and rise in blood pressure induced by the Valsalva manoeuvre. Clin Sci (Lond) 127:307-13
Palma, Jose-Alberto; Kaufmann, Horacio (2014) Autonomic disorders predicting Parkinson's disease. Parkinsonism Relat Disord 20 Suppl 1:S94-8

Showing the most recent 10 out of 65 publications