Observational Research

Research studies are a way to help improve diagnosis and treatment of frontotemporal degeneration (FTD) and all related neurodegenerative conditions. This type of research is called observational research since it involves collecting data and samples without an intervention. Our interdisciplinary team learns a great deal about FTD by collecting data and biological samples from patients to study the biology of FTD and related disorders over time. This work contributes to improving diagnosis, developing new markers of prognosis, and discovering therapeutic targets that can enhance and further the development of treatment trials aimed at treating the underlying biology of FTD and related disorders. These National Institutes of Health (NIH) funded research programs include patients, as well as healthy volunteers, and the study of DNA, brain imaging, neurocognitive testing, and the collection of blood and cerebrospinal fluid to analyze for biological markers of FTD. We collaborate on these projects with many other neurodegenerative disease centers, within Penn, nationally, and internationally. The knowledge we gain helps collaborators worldwide move the scientific understanding of disease forward and improve diagnosis and treatment.

Participation in research has enormous impact on advancing the clinical care for FTD and related disorders. You must be at least 18 years of age to participate in any research studies at the Penn FTD Center.

Observational Research Program Pamphlet

University of Pennsylvania Centralized Observational Research Repository on Neurodegenerative Disease

The purpose of this research program is to develop a better understanding of the causes and natural course of FTD and related neurodegenerative diseases by creating a large collection of different types of data. These diseases cause damage to brain cells (neurons), and they slowly worsen over time. They may cause problems with thinking, memory, movement, language, and behavior. The data and samples collected in this study are analyzed for several ongoing NIH funded studies and will be stored securely for future use.

Core activities for this study include lumbar puncture, MRI (3T), cognitive testing, neurological examination, speech tasks, blood draw, family and medical history collection, and questionnaires. By studying and integrating these data, our goal is to learn more about these diseases so we can make better tests and treatments for them in the future. Activities can be scheduled in the same day or spread out over different days. We follow up on a yearly basis to repeat these activities. The repeat visits help us learn how these diseases change over time. The study is designed to include annual visits for at least 3 years, if possible, but it is a voluntary study, which means that you can participate for any amount of time as you would like or are able to.

There are other activities that you may be eligible for depending on your diagnosis and ability to participate. These activities include conversation tasks, which help us develop new objective measures of language, computerized tasks and brief questionnaires that help us develop new measures to reflect social behavior in FTD conditions, wearable technologies to measure heart rate and other physiologic outcomes, and 7T MRI, which is a higher strength FDA approved MRI scan that allows us to take ultrahigh resolution images of the brain to help identify protein patterns that are usually only seen under the microscope.

Who do we want to study?

People with a medical diagnosis of a neurodegenerative disease, such as frontotemporal degeneration (FTD), Alzheimer’s disease (AD), Parkinson’s disease (PD), Lewy body dementia (LBD), amyotrophic lateral sclerosis (ALS), progressive supranuclear palsy(PSP), corticobasal syndrome (CBS), primary progressive aphasia (PPA), posterior cortical atrophy (PCA), etc.

People with a family history of neurodegenerative disease, who may or may not have symptoms or known related mutations.

People with no known neurological disease who will be used as a comparison (control)group. We need these data and samples to compare to the data from people in other groups.

What are the study activities?

Core Activities:

Lumbar Puncture, also known as a spinal tap (Learn more about a lumbar puncture here)
Neurological Exam with a clinician
Cognitive Testing
Questionnaires and Surveys
MRI Scan (This study has a 3T MRI and a 7T MRI)
Blood draw

Optional Activities:

Brain donation and neuropathological diagnosis

Principal Investigator: David Irwin

Project Managers: Emily Xie and Jessica Legapsi

Study Coordinator Contacts: emily.xie@pennmedicine.upenn.edu, Jessica.legaspi@pennmedicine.upenn.edu

ALLFTD2: ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Cycle 2

We are pleased to share that the ALLFTD study has received renewed funding from the National Institutes of Health (NIH) to continue its next phase known as ALLFTD2.

The purpose of the ALLFTD2 study is to advance our understanding of FTD by collecting a comprehensive dataset from individuals with symptoms and those who are at risk due to family history. Participants will be followed annually over the course of five years, which includes a combination of in-person and remote visits. Some participants may be invited to complete additional visits during their enrollment. These updates are designed to improve how we track disease progression and support the development of future clinical trials.

Eligibility Criteria:

People who have been diagnosed with an FTD clinical syndrome with or without a known genetic mutation:
- Progressive Supranuclear Palsy (PSP)
- Semantic Variant Primary Progressive Aphasia (svPPA)
- Corticobasal Syndrome (CBS)
- Behavioral Variant Frontotemporal Dementia (bvFTD)
- Nonfluent Variant Primary Progressive Aphasia (nfvPPA)
- Frontotemporal Dementia with Amyotrophic Lateral Sclerosis (FTD-ALS)
- Mild Cognitive Impairment (MCI)
- Mild Behavioral Impairment (MBI)
- Mild Motor Impairment (MMI)
Members of families in whom at least one member has a known disease-associated mutation in one of the major genes that cause FTD: MAPT, GRN, C9orf72 (or other rare genes)
Members of families with strong family history of FTD or related disorder without a known genetic mutation

Study Activities:

Neurological Exam with a clinician
In-Person & Remote Cognitive Testing
Questionnaires and Surveys
Blood Draw
3T MRI Scan
Enrollment to the FTD Disorders Registry (FTDDR)

Optional Activities:

Brain Donation
Lumbar Puncture
Genetic Testing & Counseling (availability dependent on funding)

Principal Investigator: David Irwin

Coordinators: Jessica Billingsby, M.S.

Study Coordinator Contact:

jessica.billingsby@pennmedicine.upenn.edu

PET Tau – Positron Emission Tomography (PET) Imaging of Tau Pathology in Neurodegenerative Disease

Some of the specialized studies in our center involve Positron Emission Tomography Imaging (PET/CT), which is a specialized type of imaging. While the MRI provides a structural picture of the brain, the PET scan allows us to visualize unique proteins in the brain we hope will improve our ability to diagnose FTD and related conditions. In our studies, we are looking at a protein called tau. Tau has been shown to build up in the brains of patients with injury to brain cells, including those with conditions like Alzheimer’s disease, Parkinson’s disease, Lewy body disease, and Frontotemporal degeneration. PET imaging uses a specialized radioactive PET tracer that highlights the tau protein in the brain and allows us to form images of tau binding in the brain. We combine this specialized imaging with data we gather during patient’s participation in our core research program like brain MRI, biofluids, cognitive test results, etc. and hope that this will provide information that could be used to refine and confirm diagnosis for patients in the future.

In this study we are hoping to learn more about the tau protein using a radiotracer called AV-1451. AV-1451 is used to highlight areas of the brain with the tau protein. The purpose of this study is to find out how accurate and useful the specialized radioactive tracer 18F-AV-1451 is in measuring tau protein in the brains of patients who may be diagnosed with different types of neurodegenerative disease. This study will help test how our imaging measures may provide information that could be used to determine diagnoses and treatments for patients in the future.

*All participants must also be enrolled in the UNICORN study.

Who do we want to study?

People with a known or suspected neurodegenerative disease such as Alzheimer's disease (AD), mild cognitive impairment (MCI), limbic-predominant age-related TDP-43 encephalopathy (LATE), posterior cortical atrophy (PCA), Parkinson’s disease (PD), Parkinson’s disease dementia (PDD), dementia with Lewy bodies (DLB), behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal degeneration (CBS), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), or amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD). We also want to study people with no known neurological disease who will be participating as a control group participant.

What are the study activities?

Vitals
PET scan
Follow-up phone call
Follow-up PET scan after 12-24 months to track disease changes (optional)

These activities take about 3 hours of your time.

Principal Investigator: David Irwin

Coordinator: Marianthi Hareras

Study Coordinator Contact: marianthi.hareras@pennmedicine.upenn.edu

PI 2620 - Imaging Tau Accumulation in FTLD and Atypical Alzheimer’s Disease Using the PET Ligand PI- 2620

The main purpose of this study is to evaluate a new method for measuring amounts of a harmful protein called tau in the brain using positron emission tomography (PET/CT). In its natural, healthy state, tau helps nerve cells in the brain maintain their structure. However, misfolded forms of tau can build up in the brain and damage cells. Tau is involved not only in Alzheimer’s disease (AD) but also in some forms of frontotemporal lobar degeneration (FTLD). Both of these diseases can affect people’s thinking ability, movement, and ability to function in everyday life. To detect the tau protein, we will use a specialized radioactive PET tracer called PI-2620 that has been designed to stick to the tau protein and highlight its location in the brain. PI-2620 is an investigational or experimental imaging agent that has not yet been approved by the Food and Drug Administration for use in brain imaging. We will measure how well PI-2620 detects tau in the brains of AD and certain FTLD patients. This study will help test how our imaging measures may provide information that could be used to determine diagnosis for patients in the future.

*All participants must also be enrolled in the UNICORN study.

Who do we want to study?

1. People with a medical diagnosis of a neurodegenerative disease, such as frontotemporal degeneration (FTD), Alzheimer’s disease (AD), amyotrophic lateral sclerosis (ALS), progressive supranuclear palsy (PSP), primary progressive aphasia (PPA), or posterior cortical atrophy (PCA), who may or may not have known related mutations.

2. People with no known neurological disease who will be used as a comparison (control) group. We need data and samples from controls to compare to the data from people in other groups.

What are the study activities?

Vitals
PET scan
Follow-up phone call
Follow-up PET scan after 12-24 months to track disease changes (optional)

These activities take about 3 hours of your time.

Principal Investigator: Jeffrey S. Phillips

Coordinator: Marianthi Hareras

Study Coordinator Contact: marianthi.hareras@pennmedicine.upenn.edu

DLBC - Dementia with Lewy Bodies Consortium

The goal of the Dementia with Lewy Bodies Consortium (DLBC) is to develop a collection of data from patients with Lewy body dementia, Parkinson’s Disease Dementia, or mild cognitive impairment (MCI) suggestive of an early stage of Lewy body dementia. Patients will be followed over a period of five years with detailed clinical information (e.g., medical history, cognitive testing), collection of biospecimens (e.g., blood, cerebrospinal fluid), and imaging data. The establishment of this data will help to develop a better understanding of the causes and natural course of Dementia with Lewy Bodies and diseases that may share related features or pathology, and will also promote additional future research, including therapeutic trials, by having a readily available subject sample. Subjects across the United States are being enrolled at 10 study sites.

Who do we want to study?

People who have been diagnosed with Lewy Body Disorders (LBD), including:

Dementia with Lew Bodies (DLB)
Parkinson’s Disease with Dementia (PDD)
DLB with mild cognitive impairment (DLB-MCI)

What are the study activities?

Lumbar Puncture, also known as a spinal tap (Learn more about a lumbar puncture here)
Neurological exam with a clinician
Cognitive tests
Blood tests
MRI
Dopamine scan

Optional Activities: Brain donation with neuropathological diagnosis

Principal Investigator: David Irwin

Coordinator: Ashlyn O’Halloran

Study Coordinator Contact: ashlyn.ohalloran@pennmedicine.upenn.edu

Observational Research

ALLFTD2: ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Cycle 2

Eligibility Criteria:

Study Activities:

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Optional Activities:

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Principal Investigator: David Irwin

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