UPenn Observational Research Repository on Neurodegenerative Disease

NCT04715399 | Recruiting

• 3 other identifiers: 842873R01AG054519P01AG066597
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Frontotemporal Degeneration(FTD); Familial Frontotemporal Lobar Degeneration (fFTLD); Primary Progressive Aphasia(PPA); Amyotrophic Lateral Sclerosis(ALS); Lewy Body Disease(LBD); Progressive Supranuclear Palsy(PSP); Corticobasal Syndrome(CBS); Posterior Cortical Atrophy(PCA); Alzheimer's Disease(AD)

Outcome Measures

Primary Outcomes (1)

• 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.

Secondary Outcomes (4)

• Status of progression - changes in language processing.

  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 social disinhibition.

  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.

  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

  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.

Study Arms (2)

Cross-sectional

Other: No intervention

Longitudinal

Other: No intervention

Interventions

No intervention OTHER

No intervention

Cross-sectional; Longitudinal

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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.

You may qualify if:

• This protocol will include 3 groups of people:
• People with a clinical diagnosis of a neurodegenerative disease. such as frontotemporal degeneration(FTD), primary progressive aphasia(PPA), Lewy body disease(LBD), amyotrophic lateral sclerosis(ALS), progressive supranuclear palsy(PSP), corticobasal syndrome(CBS), posterior cortical atrophy(PCA), Alzheimer's disease(AD), Parkinson's disease(PD)
• People with a family history of neurodegenerative disease who may or may not be symptomatic, and may or may not be mutation carriers such as familial frontotemporal lobar degeneration (fFTLD) or familial ALS,
• People with no known neurological disease who will provide control data.

You may not qualify if:

• Anyone who is under the age of 18.
• Anyone with a condition or in a situation which, in the Investigator's opinion, could confound the study findings or may interfere significantly with a person's participation, including but not limited to neurological, psychological and other medical conditions (such as cardiac, neurosurgical, infectious conditions).
• Individual participants may be excluded from some, but not all, study procedures for safety reasons when they have a contraindication or at the discretion of the Investigator. For example, persons with metal implants which are not MRI-safe will not be able to take part in imaging, and those on blood thinning medications may not be able to take part in lumbar puncture.
• Pregnant women; if a woman becomes pregnant during the study, research activities that may increase risk to the patient and the unborn fetus will be stopped until the end of pregnancy, at which point participation can be resumed.

Sponsors & Collaborators

• National Institutes of Health (NIH): collaborator
• United States Department of Defense: collaborator
• National Institute on Aging (NIA): collaborator
• Alzheimer's Association: collaborator
• University of Pennsylvania: lead

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

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.

MeSH Terms

Conditions

Aphasia, Primary Progressive; Amyotrophic Lateral Sclerosis; Lewy Body Disease; Supranuclear Palsy, Progressive; Corticobasal Degeneration; Alzheimer Disease

Condition Hierarchy (Ancestors)

Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Aphasia; Speech Disorders; Language Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurocognitive Disorders; Mental Disorders; Spinal Cord Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Parkinsonian Disorders; Basal Ganglia Diseases; Movement Disorders; Synucleinopathies; Ophthalmoplegia; Ocular Motility Disorders; Cranial Nerve Diseases; Tauopathies; Paralysis; Eye Diseases

Study Officials

• David Irwin, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Emily Xie

CONTACT

215-746-2781; emily.xie@pennmedicine.upenn.edu

Dahlia Kamel

CONTACT

kamel.dahlia@pennmedicine.upenn.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 11, 2021
• First Posted: January 20, 2021
• Study Start: May 29, 2020
• Primary Completion (Estimated): May 30, 2070
• Study Completion (Estimated): May 30, 2070
• Last Updated: January 22, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)