Biofluid Research on Age-Related or Inherited Neurodegeneration

NCT07798700 | Recruiting

• 4 other identifiers: 858812P01AG066597P30AG072979RF1NS145263
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

The aim of this study is to contribute to and continue to sustain a repository of blood samples, nucleic acid (DNA and/or RNA) samples, family history information, and other demographic information from individuals with age-related neurodegenerative conditions, or their family members who may or may not be at risk for similar conditions. This study will continue to further expand research into the molecular and genetic basis of these diseases and their risk factors.

Conditions

Frontotemporal Degeneration (FTD); ALS (Amyotrophic Lateral Sclerosis); Primary Progressive Aphasia (PPA); Familial Frontotemporal Lobar Degeneration (fFTLD); Fronto-temporal Lobar Dementia; Dementia With Lewy Bodies (DLB); Limbic-predominant Age-related TDP-43 Encephalopathy (LATE); Cortical Basal Syndrome (CBS); Alzheimer's Disease (AD); Progressive Supranuclear Palsy(PSP); Parkinson's Disease (PD); Parkinson's Disease Dementia (PDD); Posterior Cortical Atrophy (PCA); Primary Lateral Sclerosis (PLS); Primary Muscular Atrophy (PMA)

Keywords

Dementia; ALS; FTD; Familial FTD; Familial ALS; Neurodegeneration; Neuromuscular Diseases; Movement Disorder; Neurodegenerative Diseases

Outcome Measures

Primary Outcomes (1)

• To contribute to and continue to sustain a repository biological samples and data from individuals with age-related neurodegenerative conditions.

  To contribute to and continue to sustain a repository of blood samples, nucleic acid (DNA and/or RNA) samples, family history information, and other demographic information from individuals with age-related neurodegenerative conditions.

  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 (3)

• To collect and bank data and biospecimen samples

  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.

• To collect data and biospecimen samples from people who wish to participate in research but are unable to participate or do not meet eligibility criteria for other research protocols at our lab.

  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.

• To extend analysis, maintenance, and sharing of existing data.

  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 (3)

People with a clinical diagnosis of neurodegenerative disease

People with a clinical diagnosis of a neurodegenerative disease including, but not limited to Alzheimer's disease (AD), Parkinson's disease (PD), Parkinson's disease dementia (PDD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), progressive supranuclear palsy (PSP), primary progressive aphasia (PPA), limbic-predominant age-related TDP-43 encephalopathy (LATE), corticobasal syndrome (CBS), posterior cortical atrophy (PCA), primary lateral sclerosis (PLS), primary muscular atrophy (PMA), or individuals with a suspected neurodegenerative dementia and/or movement disorder of unknown etiology will be considered for enrollment.

Family members of individuals meeting criteria for group 1

Family Members of individuals who meet the criteria of group 1, who are people who may or may not be at risk for a similar neurodegenerative disease, who may or may not be symptomatic, and who may or may not have known or unknown genetic risk.

Healthy Controls

People with no known neurological disease who will provide control data.

Eligibility Criteria

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

Study Population

This study will recruit adults over the age of 18 who fit into one of the three study groups defined in the eligibility criteria above.

You may qualify if:

• People with a clinical diagnosis of a neurodegenerative disease including, but not limited to Alzheimer's disease (AD), Parkinson's disease (PD), Parkinson's disease dementia (PDD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), progressive supranuclear palsy (PSP), primary progressive aphasia (PPA), limbic-predominant age-related TDP-43 encephalopathy (LATE), corticobasal syndrome (CBS), posterior cortical atrophy (PCA), primary lateral sclerosis (PLS), primary muscular atrophy (PMA), or individuals with a suspected neurodegenerative dementia and/or movement disorder of unknown etiology will be considered for enrollment
• Family Members of individuals who meet the criteria of group 1, who are people who may or may not be at risk for a similar neurodegenerative disease, who may or may not be symptomatic, and who may or may not have known or unknown genetic risk.
• 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).

Sponsors & Collaborators

• University of Pennsylvania: lead
• University of Pennsylvania Institute on Aging: collaborator
• National Institute on Aging (NIA): collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Related Publications (1)

• None to list.

  BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood, CSF, and Saliva samples may be retained for future research.

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis; Aphasia, Primary Progressive; Lewy Body Disease; Alzheimer Disease; Supranuclear Palsy, Progressive; Parkinson Disease; limbic-predominant age-related TDP-43 encephalopathy; Motor Neuron Disease; Dementia; Nerve Degeneration; Neuromuscular Diseases; Movement Disorders; Neurodegenerative Diseases

Condition Hierarchy (Ancestors)

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

Study Officials

• Corey McMillan, PhD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Cara Joyce, MPH

CONTACT

267-271-0740; cara.joyce@pennmedicine.upenn.edu

Emily Xie

CONTACT

16109553114; emily.xie@pennmedicine.upenn.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Neurology

Study Record Dates

• First Submitted: August 19, 2026
• First Posted: September 1, 2026
• Study Start: December 12, 2025
• Primary Completion (Estimated): January 1, 2070
• Study Completion (Estimated): January 1, 2070
• Last Updated: September 1, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)