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.

Below is a list of our observational studies:

UNICORN

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 is the goal of this study?

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.

What types of study activities I can do?

  • 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 and
  • Neuropathological diagnosis

Principal Investigator: David Irwin

Coordinator: Samantha Ballinger

Study Coordinator Contact: samantha.ballinger@pennmedicine.upenn.edu

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

General Overview:

ALLFTD is a longitudinal study that follows participants for up to five years. Participants 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
  • (Optionally) A spinal tap (sometimes referred to as a Lumbar Puncture)

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.

The longitudinal study is split into project 1 and project 2.

Project 1 is interested in studying:

  1. 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)

   2. 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).

These individuals may or may not have a genetic finding.

The goals of each project are 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

- Help create clinical trials

 

ALLFTD – Biofluid Arm

The ALLFTD study also offers a Biofluid Arm. This arm is for people who are interested in participating but cannot commit to annual participation.

General Overview:

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
  • (Optionally) A spinal tap

The Biofluid Arm is interested in studying:

  • Those with an FTD diagnosis (ie: PSP, svPPA, CBS, bvFTD, nfvPPA, FTD/ALS).

These individuals may or may not have a genetic finding.

The goal of this project is to help create clinical trials through biofluid sample collection.

PI: David Irwin

Coordinator: Julia Kwiecinski and Natalia Parjane

Study Coordinator Contact: Julia.kwiecinski@pennmedicine.upenn.edu, Natalia.Parjane@Pennmedicine.upenn.edu

 

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

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 is the goal of this study?

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.

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.

PI: Corey McMillan

Coordinator: Jordana Woodford

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

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

Who do we want to study?

People with likely Alzheimer’s Disease Pathology, including:

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

And people with no neurodegenerative disease.

What is the goal of this study?

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.

What are the study activities?

  • Collection of demographic information
  • Medical and family history
  • Physical and neurological exam
  • Vitals
  • PET scan
  • Follow-up phone call
  • Optional: one year follow up PET scan to track disease changes

These activities take about 3 hours of your time.

PI: David Irwin

Coordinator: Lizzy Fulop

Study Coordinator Contact: Elizabeth.fulop@pennmedicine.upenn.edu

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

Who do we want to study?

People with certain neurodegenerative diseases, including:

  • Logopenic Variant Primary Progressive Aphasia (lvPPA)
  • Posterior Cortical Atrophy (PCA)
  • 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.  All participants must be enrolled in the UNICORN study.

What is the goal of this study?

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.

What are the study activities?

  • Medical history
  • Physical and neurological exam
  • Vitals
  • PET scan
  • Follow-up phone call

These activities take about 3 hours of your time.

PI: Jeffrey S. Phillips

Coordinator: Lizzy Fulop

Study Coordinator Contact: Elizabeth.fulop@pennmedicine.upenn.edu

DLBC - Dementia with Lewy Bodies Consortium

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

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

General Overview: 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.

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

PI: David Irwin

Coordinator: Lynn Eickholt

Study Coordinator Contact: Lynn.Eickholt@Pennmedicine.upenn.edu