The Phenotype and Natural History of Primary Autonomic Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by New York University School of Medicine
Sponsor:
Information provided by (Responsible Party):
New York University School of Medicine
ClinicalTrials.gov Identifier:
NCT01799915
First received: February 25, 2013
Last updated: January 22, 2014
Last verified: January 2014
  Purpose

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.


Condition
Neurogenic Orthostatic Hypotension

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: The Phenotype and Natural History of Primary Autonomic Disorders

Resource links provided by NLM:


Further study details as provided by New York University School of Medicine:

Primary Outcome Measures:
  • 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.


Secondary Outcome Measures:
  • 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


Estimated Enrollment: 300
Study Start Date: June 2011
Estimated Primary Completion Date: June 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
Neurogenic othostatic hypotension
Patients that have sever fall in blood presure due to failure in increase sympathetic vasoconstriction activity appropriately when standing.
multiple system atrophy
is a neurodegenerative disorder charaterized by abnormal alpha-synuclein deposition in the cytoplasm of oligodendroglial cells in the CNS, and typically sparing peripheral autonomic nerves.
Pure Autonomic failure
A neurodegenerative disorder characterized by loss of peripheral noradrenergic fibers, with low levels of plasma norepinephine.
Parkinson disease
A degenerative disorder of the central nervous system that leads to termors, difficulty walking, movement and coordination.
Dementia with Lewy bodies
A neurodegenerative disorder similar to PAF and PD with the accumulation of Alpha-synuclein in the CNS however DLB patients develop dementia.
autoimmune autonomic ganglionopathy
is a rare disorder characterized by the presence of autonomic failure in association with specific antibodies directed against a specific receptor of the autonomic ganglia

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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).

Criteria

Inclusion Criteria:

  1. Both male and female patients will be included
  2. Aged 18 or over
  3. Referred to any of the participating consortium sites with orthostatic intolerance, defined as symptoms of dizziness or lightheadedness in the standing position that disappear when supine.

Exclusion Criteria:

  1. Diabetes according to the American Diabetes Association criteria
  2. Congestive heart failure
  3. Lupus or other collagen vascular disease
  4. Systemic illness thought to be responsible for the orthostatic intolerance
  5. Drug-induced orthostatic hypotension (i.e., the use of alpha-blockers, diuretics, tricyclic antidepressants or others thought by the investigator to play an important role in the patient's orthostatic hypotension)
  6. Isolated vasovagal syncope
  7. Inability to comply with the protocol, e.g. uncooperative attitude, inability to return for follow-up visits, and unlikelihood of completing the study.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01799915

Locations
United States, New York
NYU Medical Center Recruiting
New York, New York, United States, 10016
Contact: Jose Martinez, MA    212-263-7225    jose.martinez@nyumc.org   
Principal Investigator: Horacio Kaufmann, MD         
Sponsors and Collaborators
New York University School of Medicine
Investigators
Principal Investigator: Horacio C Kaufmann, MD NYU MEDICAL CENTER
  More Information

No publications provided

Responsible Party: New York University School of Medicine
ClinicalTrials.gov Identifier: NCT01799915     History of Changes
Other Study ID Numbers: 08-1408
Study First Received: February 25, 2013
Last Updated: January 22, 2014
Health Authority: United States: Data and Safety Monitoring Board

Additional relevant MeSH terms:
Autonomic Nervous System Diseases
Hypotension
Hypotension, Orthostatic
Primary Dysautonomias
Cardiovascular Diseases
Nervous System Diseases
Orthostatic Intolerance
Vascular Diseases

ClinicalTrials.gov processed this record on October 21, 2014