Nervous System Diseases

Behaviors and Mental Disorders

All Conditions

Wounds and Injuries

Symptoms and General Pathology

Neoplasms

Immune System Diseases

Eye Diseases

Heart and Blood Diseases

Skin and Connective Tissue Diseases

Nutritional and Metabolic Diseases

Rare Diseases

Alzheimer Disease

Parkinson Disease

Lewy Body Disease

Spinal Cord Injuries

Paralysis

Myasthenia Gravis

Atrophy

Tremor

Essential Tremor

Supranuclear Palsy, Progressive

Multiple System Atrophy

Shy-Drager Syndrome

Syndrome

Parkinsonian Disorders

Ganglion Cysts

Synovial Cyst

Basal Ganglia Diseases

Brain Diseases

Central Nervous System Diseases

Movement Disorders

Synucleinopathies

Neurodegenerative Diseases

Dementia

Tauopathies

Neurocognitive Disorders

Mental Disorders

Psychotic Disorders

Spinal Cord Diseases

Trauma, Nervous System

Neurologic Manifestations

Paraneoplastic Syndromes

Paraneoplastic Syndromes, Nervous System

Nervous System Neoplasms

Autoimmune Diseases

Autoimmune Diseases of the Nervous System

Neuromuscular Junction Diseases

Neuromuscular Diseases

Autonomic Nervous System Diseases

Primary Dysautonomias

Hypotension

Vascular Diseases

Ophthalmoplegia

Ocular Motility Disorders

Cranial Nerve Diseases

Familial Alzheimer Disease

Progressive Supranuclear Palsy

Anti-Infective Agents

Central Nervous System Depressants

All Drugs and Chemicals

Ethanol

Phenylethyl Alcohol

Non-smokers, ages 18-80, diagnosed with Parkinson's Disease. Must be Hoehn and Yahr stage 2 or less with a history of motor symptoms less than two years.

Non-smokers, ages 18-80, diagnosed with Alzheimer's Disease. Must meet the 2011 National Institute on Aging-Alzheimer's Association and the 1984 National Institute for Neurological and Communicative Disorders and Stroke-Alzheimer's disease and Related Disorders Association criteria for probable AD.

Non-smokers, ages 18-80, diagnosed with Progressive Supranuclear Palsy. Must meet the NINDS-SPSP criteria for probable PSP, which requires vertical supranuclear gaze palsy, prominent postural instability, and falls in the first year of onset, as well as a number of other clinical features.

Non-smokers, ages 18-80, diagnosed with Essential Tremor.

Non-smokers, ages 18-80, diagnosed with Drug-Induced Parkinson's Disease.

Non-smokers, ages 18-80, diagnosed with Myasthenia Gravis.

Non-smokers, ages 18-80, who have been diagnosed with Multiple System Atrophy.

Non-smokers, ages 18-80, diagnosed with Diffuse Lewy Body Disease. Must meet the Consensus Criteria for the clinical diagnosis of DLBD.

Non-smokers, ages 18-80, with no neurodegenerative disease, and no first-degree relatives with a neurodegenerative disease.

Eye blink responses will be induced using standard stimulating electrodes employed in surface electromyography (EMG). The subjects will recline with their eyes gently closed. Sticky electrodes will be placed to the left and below the left eye. 6 different facial regions will be stimulated. The electrical stimulation will be kept constant during the test sessions. To prevent habituation, the stimuli will be delivered randomly at intervals of 45-60 sec. Four 0.2 msec pulses will be presented. In some cases, paired pulse stimulation will be performed, and a conditioning stimulus will be applied to the target facial regions at the following intervals: 10, 200, 400, 600 and 800 msec. 4 pulses will be presented at each stimulus interval with randomized interval and pulse sequences.

Electrical Brainstem Responses

Olfactory testing will be performed using standard tests. The University of Pennsylvania Smell Identification Test (UPSIT) assesses a subjects ability to identify odors in a forced choice format. The Snap and Sniff Threshold Test provides a threshold measure of phenyl ethyl alcohol. Short-term odor memory will be assessed using a standardized 12-item four-alternative forced-choice Odor Memory Test. This non-lexical test employs 10-, 30-, and 60-second delay intervals between the presentation of the target odorant and the first of four successively presented odors from which the target is to be selected.

Olfactory Tests

During a 2-hour visual deprivation period, subjects will wear comfortable light-tight goggles with lenses that have been blackened by flat black paint. Subjects will be given the opportunity to recline comfortable in a padded reclining chair during this time.

Visual Deprivation

Electrical stimulation will be applied to a nerve of your arm. Sticky electrode pads will also be placed on a hand muscle. You will receive electrical stimulations that lasts less than a second. The stimulations will make your muscle twitch.

Peripheral Nerve Stimulation

Richard L Doty, PhD

This study seeks to establish the sensitivity and specificity of what appears to be a unique brainstem biomarker of Parkinson's Disease (PD) - an electrically induced olygosynaptic nasotrigeminal reflex response - in differentiating early stage PD from normal controls and from patients with various other neurodegenerative diseases. This study will additionally compare the biomarker to olfactory testing.

Parkinson's disease (PD), a devastating age-related disease that is clinically defined by its effects on the motor system, afflicts more than six million people worldwide, imposing enormous burdens on patients, relatives, caretakers, and society in general. Diagnostic errors are common, particularly as symptoms first arise. The most common misdiagnoses are Alzheimer's disease (AD), essential tremor, and vascular pseudo-Parkinson's Disease. An accurate diagnosis is typically made at a later stage of the disease when marked and irreversible damage has occurred within the motor control system of the brain. Sensitive and specific biomarkers of the early stages of PD are urgently needed. Identification of such markers is critical for the development and assessment of medications and other interventions designed to eliminate or reduce the gradual and irreversible decline of neurons involved in the disorder. This study seeks to establish the sensitivity and specificity of what appears to be a unique brainstem biomarker of PD - an electrically induced trigeminal nerve blink reflex response - in differentiation of early stage PD from normal controls and such neurodegenerative diseases as early stage AD, progressive supranuclear palsy (PSP), and diffuse Lewy Body disease (DLBD). This study will additionally compare the biomarker to olfactory test results.

Biomarkers in Neural Disorders

Latency, amplitude, and area under the curve of electrical brainstem reflex response of trigeminal nerve branches measured on the face musculature (before and after short-term visual deprivation).

The number of correct odor identification responses out of 40 from the standardized University of Pennsylvania Smell Identification Test (before and after short-term visual deprivation).

The number of correct responses in picking out an odor previously presented from three foils 10, 30, and 60 sec later using the standardized Odor Detection/Discrimination Test (before and after short-term visual deprivation).

The average of 7 reversals in a staircase odor detection threshold test that employs phenyl ethyl alcohol (rose oil) concentrations ranging from -7 to -2 log dilutions in light mineral oil.

Michael J. Fox Foundation for Parkinson's Research

University of Pennsylvania

Gland and Hormone Related Diseases

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Diseases and Abnormalities at or Before Birth

Diabetes Mellitus

Diabetes Mellitus, Type 2

Uterine Cervical Neoplasms

Macular Degeneration

Stress Disorders, Post-Traumatic

Diabetes Mellitus, Type 1

Ovarian Neoplasms

Carcinoma, Ovarian Epithelial

Sclerosis

Multiple Sclerosis

Stress Disorders, Traumatic

Vaginal Neoplasms

Vulvar Neoplasms

Motor Neuron Disease

Amyotrophic Lateral Sclerosis

Huntington Disease

Uterine Neoplasms

Frontotemporal Dementia

Aphasia, Primary Progressive

Pick Disease of the Brain

Corticobasal Degeneration

Neuronal Ceroid-Lipofuscinoses

Aphasia

Late Onset Disorders

Metabolic Diseases

Glucose Metabolism Disorders

Endocrine System Diseases

Demyelinating Autoimmune Diseases, CNS

Demyelinating Diseases

Endocrine Gland Neoplasms

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Genital Neoplasms, Female

Urogenital Neoplasms

Gonadal Disorders

Uterine Cervical Diseases

Uterine Diseases

Retinal Degeneration

Retinal Diseases

Trauma and Stressor Related Disorders

Pathological Conditions, Anatomical

TDP-43 Proteinopathies

Proteostasis Deficiencies

Chorea

Dyskinesias

Heredodegenerative Disorders, Nervous System

Genetic Diseases, Inborn

Cognition Disorders

Vulvar Diseases

Frontotemporal Lobar Degeneration

Speech Disorders

Language Disorders

Communication Disorders

Neurobehavioral Manifestations

Vaginal Diseases

Lipidoses

Subjects in this group will have a diagnosis and/or medical history of a condition, disease, genetic background, or trait of interest.

Subjects in this group will serve as healthy controls.

Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/ leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure).

Biological Sample Collection

Becca Wood

Lisa Voltolina

Scott Noggle

The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate diverse disease research using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and store the samples for future use.

Through this research, researchers hope to identify future treatments or even cures for the major diseases of our time.

Researchers at the New York Stem Cell Foundation (NYSCF) Research Institute study diverse diseases, conditions, and traits by creating stem cells from biological samples. These "pluripotent" stem cells can become any cell in the human body, including cells that may be difficult, invasive, or impossible to obtain directly.

Additionally, researchers perform genetic testing to learn more about DNA, a material in most cells that contains instructions for the body's development and functions (such as traits like eye color and risk of certain diseases). A piece of DNA that determines the specific role of a cell is called a "gene." If the instructions in a gene are abnormal, this can lead to disease.

Participation in the study involves: (1) completion of health questionnaires, (2) providing a skin and/or blood sample from which stem cells may be created, (3) collection of a saliva sample for genetic analysis, and (4) possible future followup to provide additional information or learn about other research studies.

This study is not a clinical trial.

Skin biopsy (2-3mm) and/or blood (up to 50 mL); saliva; excess/leftover biospecimens that were (or will be) collected for other purposes (e.g., medical procedure)

NYSCF Scientific Discovery Biobank

Establishment of a diverse repository of biological samples, stem cell lines, derivatives, and associated information to support investigations into the biology, etiology, manifestations, progression, risk factors, genetic underpinnings, and treatment of diseases, conditions, and traits.

New York Stem Cell Foundation Research Institute

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Biomarkers in Neural Disorders	NCT02761707	Parkinson's Dis... Alzheimer's Dis... Progressive Sup... Essential Tremo... Multiple System... Drug Induced Pa... Diffuse Lewy Bo... Myasthenia Grav... Spinal Cord Inj...	Electrical Brai... Olfactory Tests Visual Deprivat... Peripheral Nerv...	18 Years - 80 Years	University of Pennsylvania
NYSCF Scientific Discovery Biobank	NCT06203106	ALS Amyotrophic Lat... Alzheimer Disea... Alzheimer Disea... Alzheimer Disea... Batten Disease Corticobasal De... Dementia Frontotemporal ... Huntington Dise... Lewy Body Disea... Multiple Sclero... Multiple System... Parkinson Disea... Parkinson's Dis... Progressive Sup... INAD Diabetes Diabetes Mellit... Diabetes Mellit... Diabetes Mellit... Macular Degener... Ovarian Cancer Cervical Cancer Uterine Cancer Vaginal Cancer Vulvar Cancer PTSD Post Traumatic ...	Biological Samp...	30 Days -	New York Stem Cell Foundation Research Institute

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