The Penn FTD Center is inviting individuals who come from a family with a history of Frontotemporal degeneration spectrum disorder or a known Frontotemporal degeneration (FTD) genetic cause but do not have a FTD disorder to participate in our research efforts. This study is designed to help understand the earliest features of possible FTD development, as well as better understand genetic forms of FTD overall. Having a family history of FTD can raise difficult concerns and emotions, including concerns about one's own personal risk for developing FTD. The Penn FTD Center is sensitive to these concerns and deeply respects all the individuals and families that volunteer for these important research efforts. Due to the genetic concerns and frequent questions about genetic testing, we also provide genetic counseling to all participants. All contact and conversations will be kept strictly confidential.
Who can participate?
Healthy adults (18 years of age of older) who do not have a Frontotemporal degeneration spectrum disorders, but come from a family with either a known or suspected genetic cause of FTD.
What type of activities are involved?
Participation in this study requires a two-day visit to the Penn FTD Center at the Hospital of the University of Pennsylvania. The clinical research activities include:
• Neurology Examination
• Cognitive Testing (different mental tasks and questions)
• Blood sample
• MRI brain scan
• Cerebrospinal fluid (CSF) collection performed by spinal tap
• Genetic Counseling and family history
The spinal tap are optional, and we encourage you to ask questions and learn more about the risks and benefits of all elements of the research.
There is no charge for participation in these studies.
How long does the study take?
The first visit takes about two full days to complete. We invite individuals to return either once a year or whenever is convenient to repeat these same activities over several years. Coming in for a first, one-time visit does not mean that you are required to return for future visits; participation is always voluntary.
Why is this study important?
The research data collected through this study will provide crucial information about the earliest signs of FTD. This information will be invaluable in terms of guiding research and clinical trials for preventative options. This study is also important in terms of understanding the concerns and issues that are important to individuals with a genetic risk of FTD and may impact future clinical guidelines for providing genetic counseling and testing services.
The Familial FTD Research Study does provide an option to pursue predictive genetic testing.
The issue of genetic testing and the privacy of genetic results is a frequent and important question that arises in this study. Many individuals with a familial or genetic risk of FTD do not want to know their own personal genetic results. Please note that participation in this study does NOT require you to learn your personal genetic results. In fact, all genetic research results generated from this study are blinded, meaning that the study coordinator, physicians, genetic counselor and other members of the research staff do not learn any of your personal genetic results.
If you do want to learn your genetic results, we can provide predictive genetic testing services. The purpose of the predictive genetic testing process is to provide a structured, thorough, and supportive approach to learning your genetic status. If, after completing the first research appointment, you decide to learn your genetic result, you would then return for an additional counseling visit. This second visit includes additional genetic counseling as well as meeting with a mental health professional to discuss the impact of learning the genetic results. A blood sample would be collected and sent to the University of Pennsylvania clinical genetic testing laboratory to be tested for the known family gene mutation. A third visit would occur about 4 weeks later, at which time you would learn your result. A support person, such as a close friend or family member, would be required to accompany you for these predictive genetic testing sessions.
Please do not hesitate to contact us with questions about this important research effort.