Dysautonomia Center Clinical Trials
NYU Langone’s Dysautonomia Center conducts clinical trials with the goal of translating laboratory findings into new, more effective treatments for people with autonomic disorders.
The aim of our research program is to advance the understanding of autonomic disorders and develop specific treatments that improve quality of life and survival through evidence-based medicine. Our clinical trials allow us to investigate possible treatments for these conditions. We conduct clinical trials for disease-modifying therapies, which target the underlying cause of the disease and are aimed at preserving function and prolonging survival. We also conduct clinical trials of symptomatic treatments, which target a particular symptom to make patients feel better.
Research Opportunities for Patients with Multiple System Atrophy, Parkinson’s Disease, Dementia with Lewy bodies, and Pure Autonomic Failure
The Natural History Study of Synucleinopathies
The center leads an international collaborative effort to understand the natural history of a group of neurodegenerative diseases known as synucleinopathies. These diseases are caused by the misfolded protein alpha-synuclein, which accumulates in the nervous system, causing diseases such as Parkinson’s disease, multiple system atrophy, Lewy body dementia, and pure autonomic failure. This research effort, supported by the National Institutes of Health (NIH), has over 20 recruiting sites all over the world with the goal of mapping the natural history of the synucleinopathies and identifying clinical features that can be used to diagnose these diseases in the prodromal early phase.
A Futility Trial of Sirolimus in Multiple System Atrophy
With the support of the NIH, investigators are testing the promise of a drug that enhances autophagy, or the body’s “garbage truck” method of cleaning out damaged cells. The drug, sirolimus (also called rapamycin), has been known for decades and is currently approved by the U.S. Food and Drug Administration (FDA) to prevent organ transplant rejection, and to treat a rare lung disease. Studying a drug that is already FDA-approved for other purposes has several advantages, including increased safety, given that the side effects of this drug are well described and can, therefore, be anticipated and prevented. Moreover, there is research data showing that sirolimus administration to cells of mice reduces neurodegeneration. The trial will test if this is also true in humans.
The study involves giving sirolimus or placebo for one year to patients with multiple system atrophy (MSA) who are still able to walk, with or without assistance. The trial is designed such that three out of four participants with MSA will get sirolimus, and one out of four will get placebo. By using neurological rating scales, brain MRI, and retinal scans, investigators hope to determine if sirolimus can slow the progression of MSA.
Phase 2 Norepinephrine Transporter Blockade, Autonomic Failure
With support from the FDA and Vanderbilt University Medical Center, we investigate whether the approved drug atomoxetine can be used to treat patients with neurogenic orthostatic hypotension, or low blood pressure that occurs upon standing. Atomoxetine is a selective norepinephrine transporter blocker that increases the availability of norepinephrine. Atomoxetine has been shown to increase blood pressure in this population of patients. This study will determine whether this is a safe and effective treatment option for patients with autonomic failure.
TD-9855 Phase 2 in Neurogenic Orthostatic Hypotension
With support from Theravance Biopharma R and D, Inc., we are conducting a clinical trial to assess whether a potential norepinephrine inhibitor drug called TD-9855 can increase blood pressure in subjects with primary forms of autonomic failure, and if this is associated with an improvement in symptoms of orthostatic lightheadedness, or dizziness, owing to impaired blood pressure regulation.
Retinal Abnormalities as a Biomarker of Disease Progression and Early Diagnosis of Parkinson’s Disease
With the support of The Michael J. Fox Parkinson’s Research Foundation, we are investigating whether high-definition tomography scans of the retina can be used to track the progression of Parkinson’s disease. This information will be used to determine if pictures of the retina might be a biomarker that can be used to track the progression of the neurodegenerative process in patients with Parkinson’s disease and other synucleinopathies.
Research Opportunities for Patients with Familial Dysautonomia and Other Sensory and Autonomic Neuropathies
Familial Dysautonomia Natural History Project
To develop any new treatment for familial dysautonomia (FD), we have to have a clear understanding of how the features of the disease change over time. This study is designed to collect clinical information from patients with FD over time and track the changes that occur as patients age. We collect data that allow us to follow not only the function of each patient’s lungs, heart, kidneys, eyes, and gut, but also patients’ sleep patterns and bone formation. This comprehensive data set will enable us to evaluate which treatments actually improve survival and quality of life at different stages of the disease.
Patients who participate in the project do not need to undergo any additional tests at their annual visits. A blood donation for our biorepository is optional. All data will remain anonymous. For more details on the study, call 212-263-7225.
Carbidopa in Familial Dysautonomia Phase 2 Study
With the support of the FDA’s Office of Orphan Products Development, we are testing whether the drug carbidopa can be used to successfully prevent hypertensive surges in blood pressure in patients with FD. If successful, this strategy would protect the heart, kidneys, and brain from hypertensive damage caused by surges in catecholamines.
A Study of Gut Flora in Familial Dysautonomia (MIBIOM)
Maintaining a healthy weight is a problem for a number of people with FD. For unknown reasons, a large number of patients suffer from malnutrition despite adequate caloric intake. The microbiome is an evolving field of research, and disruptions in the microbiome have been implicated in a number of neurological conditions. The aim of this study is to better understand the microorganisms that live in the gut of patients with FD and whether these play a role in digestive function and metabolic status.
Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy
This study is a collaboration with world-renowned neurophysiologist Vaughan Macefield, PhD, at Western Sydney University, with support from the National Health and Medical Research Council of Australia. The purpose of the study is to understand disturbances in proprioception—how well we sense the positions of our limbs without seeing them—in people with FD. Our ultimate goal is to help patients with FD walk better. We want to find new and better ways to enhance the preserved signals from the skin to help guide the movement of the limbs.
We are also collaborating with the laboratory of Arthur J. Nelson Jr. at NYU Steinhardt’s Human Performance Laboratory, to evaluate the specific ways in which people with FD move. To learn more about the study, call 212-263-7225.
The Eye in Familial Dysautonomia
This study, conducted in a state-of-the-art eye laboratory at the center, aims to understand why patients with FD go blind as they age. Using high-definition scans of the retina in combination with thorough clinical assessments of vision, we are learning how degeneration of the retina and problems in the cornea affect sight overtime. Our goal is to develop strategies to help save vision.
Assessment of Kidney Function in People with Familial Dysautonomia
Early onset kidney disease occurs in patients with FD. This study, in collaboration with Howard Trachtman, MD, aims to determine whether we can use markers of early renal injury in urine and in blood to detect when the kidneys are damaged. Our hope is that by being able to detect renal injury in the very early stages, we can develop a proactive treatment plan to protect the kidneys for the long term.
Understanding the Muscle in Familial Dysautonomia
People with FD develop problems with muscle tissue, including atrophy and injury. To investigate why this occurs we are taking samples of muscle during routine surgeries to look at the structure and function of the muscle. These samples, obtained, for example, during spine surgery, are examined to look at the structure, innervation, and energy components of the muscle. By understanding more about the muscle, we can learn how best to prevent muscle damage.
Brainstem Reflexes in Familial Dysautonomia
Almost all the reflexes that coordinate the automatic functions of the body are impaired in patients with familial dysautonomia. The brainstem is a critical area where information from the body is received in the brain. This area helps coordinate functions such as breathing, swallowing, blinking, and blood pressure control. By studying the brainstem reflexes with small electrical currents, we can better understand why these functions are impaired, and with this information, we can develop strategies to overcome these deficits.
To learn more about our clinical trials or to participate, please contact our senior clinical trials manager Jose Martinez at 212-263-7225.