The Phenotype and Natural History of Primary Autonomic Disorders
Primary autonomic disorders are a group of diseases that usually begin in adulthood with the inability to stand because of dizziness, lightheadedness and fainting. Symptoms are the result of a dysfunction in the autonomic nerves that regulate blood pressure and heart rate, and are either related to the accumulation of abnormal protein deposits and a primary neurodegenerative process (like Parkinson's disease, pure autonomic failure, dementia with Lewy bodies and multiple system atrophy), secondary to genetic abnormalities (dopamine-beta-hydroxylase deficiency), an autoimmune process (autoimmune ganglionopathy), or because of a direct injury to the nerves involved in buffering blood pressure fluctuations (acquired baroreflex failure). Furthermore, there are a group disorders that are characterized by disabling orthostatic intolerance such as the postural tachycardia syndrome (POTS) in which the underlying cause is unclear. The purpose of this study is to characterize the clinical features and biological markers of the different types of primary autonomic disorders and better understand how these disorders evolve over time. The study will involve a series of follow-up visits to Centers participating in the Autonomic Disorders Consortium.
Neurogenic Orthostatic Hypotension
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||The Phenotype and Natural History of Primary Autonomic Disorders|
- To create a database of primary autonomic disorders that will serve as a phenotyping core. [ Time Frame: 5 years ] [ Designated as safety issue: No ]We will create an enrollment database of patients with primary autonomic disorders. All patients will have standardized phenotyping evaluations that will combine clinical, physiological and biochemical strategies to characterize complex autonomic phenotypes, both known and still undiscovered.
- To define the natural history of neurogenic orthostatic hypotension and identify predictive biomarkers of autonomic disorders [ Time Frame: 5 years ] [ Designated as safety issue: No ]We will map the natural history of primary autonomic failure and test the hypothesis that pure autonomic failure (PAF) is a neurodegenerative synucleinopathy that remains confined to the autonomic nervous system. We will also identify biomarkers that can distinguish patients with PAF from those with early (i.e., "pre-motor") MSA, PD, DLB or autonomic failure as a result of another disorder.
Biospecimen Retention: Samples With DNA
Blood Sample for DNA processing
|Study Start Date:||June 2011|
|Estimated Primary Completion Date:||June 2015 (Final data collection date for primary outcome measure)|
|Neurogenic othostatic hypotension|
|multiple system atrophy|
|Pure Autonomic failure|
|Dementia with Lewy bodies|
|autoimmune autonomic ganglionopathy|
Show Detailed Description
|United States, New York|
|NYU Medical Center||Recruiting|
|New York, New York, United States, 10016|
|Contact: Jose Martinez, MA 212-263-7225 email@example.com|
|Principal Investigator: Horacio Kaufmann, MD|
|Principal Investigator:||Horacio C Kaufmann, MD||NYU MEDICAL CENTER|