Observational Research

The Penn Frontotemporal Degeneration Center learns a great deal about Frontotemporal degeneration by studying patients who have been diagnosed with a Frontotemporal degeneration spectrum disorder by collecting data and biological samples to study the biology of FTD and related disorders. Our National Institutes of Health funded research studies for patients as well as healthy volunteers include genomic, neuroimaging, neurocognitive testing and the collection of biomarkers, including blood and cerebrospinal fluid. This work contributes to improving the 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.

Learn more about a lumbar puncture here.

For general information please contact Dahlia Kamel, Clinical Research Program and Operations Lead

University of Pennsylvania Centralized Observational Research Repository on Neurodegenerative Disease

The goal of this study is to learn more about FTD and related neurodegenerative diseases by creating a large collection of different types of data. The types of data we collect include MRI scans, cognitive test scores, and biofluid samples. By studying this data, we hope to learn more about these diseases, so that we can make better tests and treatments for them in the future. Activities can all be scheduled in the same day or spread out among different days. We also follow up on a yearly basis (between 6 – 18 months after your first visit) to repeat these activities. Yearly visits will help us learn how these diseases change over time. This is a voluntary study, which means that you can participate for as long or as short as you want.

Who do we want to study?

People with a diagnosis of a neurodegenerative disease (Ex: Alzheimer’s disease, Frontotemporal dementia syndromes, Lewy body disorders and Amyotrophic lateral sclerosis, progressive supra nuclear palsy (PSP), and corticobasal syndrome (CBS).), people with a family history of neurodegenerative disease, & people with no neurological disease. You must be at least 18 years old to be in this study.

What are the study activities?

Lumbar Puncture, also known as a spinal tap
Neurological Exam with a clinician
Cognitive Testing
MRI Scan (This study has a 3T MRI and a 7T MRI)
Blood draw

Optional Activities:
Brain donation
Neuropathological diagnosis

Principal Investigator: David Irwin

Coordinator: Emily Xie

Study Coordinator Contact: emily.xie@pennmedicine.upenn.edu

ALLFTD (ARTFL-LEFFTDS) Longitudinal Frontotemporal Lobar Degeneration) Project 1 and 2

ALLFTD is a longitudinal study that follows participants for up to five years with the goal to use clinical and imaging tools to track change over time, identify ways to predict if an at-risk individual will develop symptoms, identify ways to predict the course of the disease in individuals who become symptomatic and help create clinical trials. This study is separated into project 1 and project 2.

Participants also have the option to meet with our genetic counselor. The genetic counselor will discuss any questions related to the genetic aspects of FTD. Genetic testing is NOT required as part of this study but is available if an individual is interested in learning their genetic status.

Who do we want to study?

Project 1 is interested in studying:

Those who are part of a family where at least one direct relative has a known genetic finding associated with familial-FTLD (ie: MAPT, GRN, C9orf72, and other rare genes) (OR)
Those with a strong family history of an FTLD syndrome without the presence of a known genetic mutation.

Project 2 is interested in studying:

Those with an FTD diagnosis (ie: PSP, svPPA, CBS, bvFTD, nfvPPA, FTD/ALS). The ALLFTD study also offers a Biofluid Arm. This arm is for people who are interested in participating but cannot commit to annual participation. The goal of this project is to help create clinical trials through biofluid sample collection.

We are looking to study:

Those with an FTD diagnosis (ie: PSP, svPPA, CBS, bvFTD, nfvPPA, FTD/ALS). These individuals may or may not have a genetic finding.

What are the study activities?

Participants for project 1 and 2 are asked to complete:

Cognitive testing
A neurological exam with one of our doctors - Questionnaires (both the participant and a study partner)
A blood draw
An MRI
A spinal tap (optional, sometimes referred to as a Lumbar Puncture)

The Biofluid Arm includes a one-time visit. Participants are asked to complete:

A neurological exam
Questionnaires (both the participant and a study partner)
A blood draw
A spinal tap (optional)

Principal Investigator: David Irwin

Coordinator: Julia Kwiecinski

Study Coordinator Contact: Julia.kwiecinski@pennmedicine.upenn.edu

CReATe PGB2 Study - Clinical Research in ALS and Related Disorders for Therapeutic Development - Phenotype, Genotype and Biomarkers (2)

This is an observational study. We want to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). We also want to identify biomarkers of ALS and related diseases (a biomarker is an indicator of the disease that can easily be measured). Our long-term goal is to use this information to advance the development of therapies for this group of neurodegenerative disorders.

Who do we want to study?

People diagnosed with, or suspected of having, ALS or a related neurodegenerative disorder, including: ALS-frontotemporal dementia (ALS-FTD) Primary Lateral Sclerosis (PLS) Hereditary Spastic Paraplegia (HSP) Progressive Muscular Atrophy (PMA) Frontotemporal Dementia (FTD)

What are the study activities?

Collection of demographic information
Medical and family history
Neurological exam
Vitals
Measuring strength of breathing muscles
Questionnaires about your symptoms and diagnosis
Cognitive Assessment
Questionnaires about daily activities and quality of life
Biofluid (blood and urine) collection
Lumbar Puncture (optional)
Annual call (to update records)

These activities take about 2 hours of your time.

Principal Investigator: Corey McMillan

Coordinator: Jordana Woodford

Study Coordinator Contact: Jordana.Woodford@Pennmedicine.upenn.edu

AV1451 Study – Positron Emission Tomography (PET) Imaging of Tau Pathology in Neurodegenerative Disease

This is an observational study. We want to learn more about the tau protein using a radiotracer called AV-1451. Tau is found in those with AD pathology. Positron emission tomography (PET) scans are a type of brain imaging that use radiotracers. In this study, AV-1451 is used to highlight areas of the brain with the tau protein. This information may help with diagnosis and treatment of neurodegenerative disease in the future.

Who do we want to study?

Those diagnosed with:

Mild Cognitive Impairment (MCI)
Alzheimer's Disease (AD)
Logopenic Variant
Primary Progressive Aphasia (lvPPA)
Posterior Cortical Atrophy (PCA)
Frontotemporal dementia (FTD) with evidence of amyloid

And people with no neurodegenerative disease.

What are the study activities?

Vitals
PET scan
Follow-up phone call
One year follow up PET scan to track disease changes (optional)

These activities take about 3 hours of your time.

Principal Investigator: David Irwin

Coordinator: Sevila Temirova & Marianthi Hareras

Study Coordinator Contact: Sevila.Temirova@Pennmedicine.upenn.edu

Secondary 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

We want to learn more about the tau protein using a radiotracer called PI-2620. Positron emission tomography (PET) scans are a type of brain imaging that use radiotracers. In this study, PI-2620 is used to highlight areas of the brain with tau. This study is a clinical trial because PI-2620 has not yet been approved by the Food and Drug Administration (FDA). This information may help with diagnosis and treatments of neurodegenerative disease in the future.

All participants must be involved in the UNICORN study.

Who do we want to study?

People with certain neurodegenerative diseases, including:

Posterior Cortical Atrophy (PCA)
Logopenic Variant Primary Progressive Aphasia (IvPPA_
Progressive Supranuclear Palsy (PSP)
Non-fluent Primary Progressive Aphasia (naPPA)
Semantic-Variant Primary Progressive Aphasia (svPPA) -Amyotrophic Lateral Sclerosis with Frontotemporal Dementia (ALS-FTD)

And people with no neurodegenerative disease.

What are the study activities?

Vitals
PET scan
Follow-up phone call
One year follow up PET scan to track disease changes (optional)

These activities take about 3 hours of your time.

Principal Investigator: Jeffrey S. Phillips

Coordinator: Sevila Temirova & Marianthi Hareras

Study Coordinator Contact: Sevila.Temirova@Pennmedicine.upenn.edu

Secondary Coordinator Contact:

marianthi.hareras@pennmedicine.upenn.edu

DLBC - Dementia with Lewy Bodies Consortium

This is an observational study. We want to learn more about the biology of LBD. We collect cognitive tests, brain scans, spinal fluid, and blood. We repeat these activities yearly to see how the disease changes over time. This information will help us with diagnosis and treatments in the future.

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
Neurological exam with a clinician
Cognitive tests
Blood tests
MRI
Dopamine scan

Optional Activities: Brain donation with neuropathological diagnosis

Principal Investigator: David Irwin

Coordinator: Emily Xie & Ashlyn O’Halloran

Study Coordinator Contact: emily.xie@pennmedicine.upenn.edu

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

Observational Research

University of Pennsylvania Centralized Observational Research Repository on Neurodegenerative Disease

What are the study activities? ​​

Lumbar Puncture, also known as a spinal tap

Neurological Exam with a clinician

Cognitive Testing

MRI Scan (This study has a 3T MRI and a 7T MRI)

Blood draw Optional Activities:

Brain donation

Neuropathological diagnosis

Principal Investigator: David Irwin

Subscribe to the Penn FTD Center Newsletter:

What are the study activities?

Blood draw

Optional Activities: