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.
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
| Singh, Kanwaljit; Palma, Jose-Alberto; Kaufmann, Horacio et al. (2018) Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep Med 45:33-38 |
| Norcliffe-Kaufmann, Lucy; Galindo-Mendez, Brahyan; Garcia-Guarniz, Ana-Lucia et al. (2018) Transcranial Doppler in autonomic testing: standards and clinical applications. Clin Auton Res 28:187-202 |
| Mehr, Shahram E; Barbul, Adrian; Shibao, Cyndya A (2018) Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review. Clin Auton Res 28:411-421 |
| Wenning, Gregor; Trojanowski, John Q; Kaufmann, Horacio et al. (2018) Is multiple system atrophy an infectious disease? Ann Neurol 83:10-12 |
| Cutsforth-Gregory, Jeremy K; McKeon, Andrew; Coon, Elizabeth A et al. (2018) Ganglionic Antibody Level as a Predictor of Severity of Autonomic Failure. Mayo Clin Proc 93:1440-1447 |
| Palma, Jose-Alberto (2018) Autonomic dysfunction in Parkinson's disease and other synucleinopathies: Introduction to the series. Mov Disord 33:347-348 |
| van den Berg, Maarten P; Almomani, Rowida; Biaggioni, Italo et al. (2018) Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. Circ Res 122:846-854 |
| Bar-Aluma, Bat-El; Efrati, Ori; Kaufmann, Horacio et al. (2018) A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. Lung 196:93-101 |
| Palma, Jose-Alberto; Kaufmann, Horacio (2018) Treatment of autonomic dysfunction in Parkinson disease and other synucleinopathies. Mov Disord 33:372-390 |
| Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio; Palma, Jose-Alberto et al. (2018) Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. Ann Neurol 83:522-531 |
Showing the most recent 10 out of 161 publications
