The discovery of the C9orf72 gene is an important breakthrough in understanding FTD (frontotemporal degeneration) and ALS (amyotrophic lateral sclerosis). Current research efforts are focused on trying to better understand the science of how and why the change of genetic material in C9orf72 can cause FTD, ALS, or even symptoms of both conditions.
What is C9orf72?
Everyone has 2 copies of the C9orf72 gene. At a specific location in the gene, there is typically a small repeat of the genetic units GGGGCC. However, when this section has 30 repeats or greater, this is considered to be a genetic change that can cause FTD and/or ALS to develop. A genetic testing laboratory can test for the C9orf72 change. If an individual has the C9orf72 change, there is a 50% inheritance risk to other family members.
C9orf72 is considered to be the most common genetic cause of both FTD and ALS. The risk is greater if there is a positive family history of disease (either FTD or ALS), but C9orf72 changes have also been found in a small percentage of FTD or ALS patients that do not have other family members affected by one of these neurodegenerative conditions.
Who is eligible to participate in research?
· Individuals with FTD and/or ALS that have a change in C9orf72
· Healthy family members (parents, siblings, and adult children) of an individual with a change in C9orf72 (individuals must be 18 years or older to participate in research)
What does the research involve?
Participation in this study requires a one-day visit to the Penn FTD Center at the Hospital of the University of Pennsylvania. During this visit, individuals will participate in a neurological exam, cognitive testing, genetic counseling, and have a small amount of blood drawn. There is also an optional MRI brain scan and lumbar puncture. Individuals will be compensated $50 for their participation. We encourage questions to learn more about the risks and benefits of all elements of the research.
Why is this research important?
For individuals with FTD and/or ALS, participating in research will provide information to better understand how changes in the C9orf72 gene can lead to the development of disease. This understanding helps guide scientific research to develop therapies targeting the treatment and prevention of these conditions.
For healthy family members who are at 50% risk of also having a change in C9orf72 , the information collected through this study will provide crucial insight about the earliest signs of FTD and/or ALS due to C9orf72. This information will be invaluable in terms of clinical trials and preventative options, once available. 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/or ALS.