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| ID | Type | Description | Link |
|---|---|---|---|
| R01AG054519 | U.S. NIH Grant/Contract | View source | |
| P01AG066597 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| United States Department of Defense | FED |
| National Institute on Aging (NIA) | NIH |
| Alzheimer's Association |
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The aim of this study is to create a repository of both cross-sectional and longitudinal data, including cognitive, linguistic, imaging and biofluid biological specimens, for neurodegenerative disease research and treatment.
The Principal Investigator (PI) at the University of Pennsylvania seeks to better understand neurodegenerative diseases and is continually expanding research efforts and collaborations regarding the factors which may contribute to these illnesses. Investigators seek to better understand the basis of neurodegenerative conditions by creating a multimodal repository, including: clinical data such as demographic characteristics, vital signs and motor scales; cognitive and speech data; neuroimaging data; and biological specimens with associated biofluid biomarkers and genetic data. Investigators pursue acquiring these data from neurodegenerative disease patients, people at risk for neurodegenerative disease due to a family history, and unaffected adults. Targeted conditions include frontotemporal degeneration (FTD), primary progressive aphasia PPA), amyotrophic lateral sclerosis (ALS), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), familial frontotemporal lobar degeneration (fFTLD), non-amnestic variants of Alzheimer's disease including logopenic progressive aphasia and posterior cortical atrophy, and Lewy body disease. This study aims to collect clinical and cognitive data, imaging data, and biospecimen samples from people whose background can inform research and treatment for neurodegenerative diseases, and make these samples and data available to qualified researchers at the University of Pennsylvania and collaborating academic centers and industry partners.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cross-sectional |
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| Longitudinal |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | No intervention |
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| Measure | Description | Time Frame |
|---|---|---|
| Status of progression - changes in neuropsychological tests. | The changes of neuropsychological tests (well known cognitive measures such as: Naming test, CVLT, MoCA, Oral Trails, etc.) in neurodegenerative diseases over time. | This is a natural history study-participants are followed from date of enrollment until death, withdraw, or funding is no longer available, or until 600 months have passed. |
| Measure | Description | Time Frame |
|---|---|---|
| Status of progression - changes in language processing. | The effect of changes in language processing (e.g. effortful speech, lexical-semantic representations) as categorized by impaired speech fluency, motor speech deficits and semantic memory deficits in neurodegenerative diseases over time. | This is a natural history study-participants are followed from date of enrollment until death, withdraw, or funding is no longer available, or until 600 months have passed. |
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Inclusion Criteria:
This protocol will include 3 groups of people:
Exclusion Criteria:
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To better understand neurodegenerative diseases, the investigators will include people living with these illnesses, people at risk of developing these illnesses, and people without neurodegenerative disease who wish to contribute to science as controls.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Emily Xie | Contact | 215-746-2781 | emily.xie@pennmedicine.upenn.edu | |
| Dahlia Kamel | Contact | kamel.dahlia@pennmedicine.upenn.edu |
| Name | Affiliation | Role |
|---|---|---|
| David Irwin, MD | University of Pennsylvania | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Pennsylvania | Recruiting | Philadelphia | Pennsylvania | 19104 | United States |
Information about study participants will be kept confidential and managed according to the requirements of the Health Insurance Portability and Accountability Act of 1996 (HIPAA). Only deidentified data will be shared. We will not share individual participant identifiable data with other researchers outside of the institution, unless the participant allows us to by signing a separate data release form.
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| OTHER |
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Blood samples, cerebrospinal fluid (CSF) samples, and saliva or buccal samples may be taken and stored for DNA, RNA and protein extraction and analysis at the University of Pennsylvania and/or research collaborators elsewhere.
| Status of progression - changes in social disinhibition. | The effect of changes in social behavioral testing, which categorized by rule violation (social disinhibition) progression in neurodegenerative diseases over time. | This is a natural history study-participants are followed from date of enrollment until death, withdraw, or funding is no longer available, or until 600 months have passed. |
| Status of progression - changes in biofluids. | The change of disease status as categorized by biomarkers in biofluids in neurodegenerative diseases over time. | This is a natural history study-participants are followed from date of enrollment until death, withdraw, or funding is no longer available, or until 600 months have passed. |
| Status of progression -changes in Neuroimaging | The progressive changes of images in multimodal neuroimaging techniques in neurodegenerative diseases over time. | This is a natural history study-participants are followed from date of enrollment until death, withdraw, or funding is no longer available, or until 600 months have passed. |
| ID | Term |
|---|---|
| D018888 | Aphasia, Primary Progressive |
| D000690 | Amyotrophic Lateral Sclerosis |
| D020961 | Lewy Body Disease |
| D013494 | Supranuclear Palsy, Progressive |
| D000088282 | Corticobasal Degeneration |
| D000544 | Alzheimer Disease |
| ID | Term |
|---|---|
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D001037 | Aphasia |
| D013064 | Speech Disorders |
| D007806 | Language Disorders |
| D003147 | Communication Disorders |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D013118 | Spinal Cord Diseases |
| D016472 | Motor Neuron Disease |
| D019636 | Neurodegenerative Diseases |
| D057177 | TDP-43 Proteinopathies |
| D009468 | Neuromuscular Diseases |
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D020734 | Parkinsonian Disorders |
| D001480 | Basal Ganglia Diseases |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |
| D009886 | Ophthalmoplegia |
| D015835 | Ocular Motility Disorders |
| D003389 | Cranial Nerve Diseases |
| D024801 | Tauopathies |
| D010243 | Paralysis |
| D005128 | Eye Diseases |
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