The Progranulin Gene Frontotemporal Dementia (PG FTD) Study is a U.S. observational study to investigate the genetic background of individuals with frontotemporal dementia (FTD). The study will enroll up to 1000 participants over 18 months.
The purpose of the study is to:
- Identify people at risk for or with FTD to understand the prevalence of genetic FTD.
- Better understand the reasons why people decide to have genetic testing for FTD.
What is involved during the study?
Individuals and families affected with FTD who meet eligibility criteria (listed below) will be enrolled into the study. As part of this study, all participants will receive genetic counseling and genetic testing of the GRN, MAPT and C9ORF72 genes at no charge.
The genetic counselors at InformedDNA working on this study are highly trained in hereditary neurological conditions. As part of the research study, the genetic counselor will:
- Offer pre-test genetic counseling
- Collect the participant’s medical history and a detailed family history.
- Discuss the genetics of FTD, including what we know about genes that cause FTD and how it is inherited.
- Explore the benefits and limitations of genetic testing, and discuss the possible impact of genetic test results on personal health, insurance, and family members.
- Facilitate convenient genetic testing, performed through an at-home buccal swab collection
- A buccal swab collection kit will be sent to the participant’s home. The participant will swab the inside of their mouth (cheek) and then send it to PreventionGenetics laboratory for testing.
- Review the results
- Results will be available in approximately four weeks. The participant will be contacted by InformedDNA to schedule a post-test genetic consultation once the results are available. Results will be provided by the genetic counselor directly to the participant.
- Help to identify other family members who may also be at risk and could benefit from genetic consultation and genetic testing.
Will it cost me anything to participate in the study?
No. Participation is free. This means there is no cost for the genetic consultations or genetic testing performed as a part of this study.
Will I be compensated for my participation?
No. There is no compensation for participation in the study.
Who will receive my results?
Participants will receive a copy of their results. Participants have the option of having the result sent to their healthcare provider.
Eligibility
Each individual will be evaluated by a genetic counselor to determine their eligibility for the PG FTD study.
If you (or the patient you are referring) meet the following key eligibility criteria, follow the instructions at the bottom of this page.
- The participant is at least 25 years of age and lives within the continental United States.
- The participant is diagnosed with FTD.
— OR —
The participant is not diagnosed with FTD, but has a family history of FTD or a family history of a progranulin gene mutation. - The unaffected participant does not have a personal and/or family history of motor neuron disease (e.g., ALS, also called Lou Gehrig’s disease).
- The unaffected participant does not have a family history of a mutation in a gene related to FTD other than the progranulin gene (e.g., C9orf72 or MAPT).
What is FTD?
FTD is a progressive, neurodegenerative condition. It is the most common cause of dementia under age 60 years. FTD generally impacts the parts of the brain involved with behavior, language and executive functioning (planning, organization). Other areas can be impacted, including memory and movement.
Why do people pursue genetic testing for FTD?
Sometimes FTD can run in a family, with more than one person having a diagnosis. This is called familial FTD. Sometimes, familial FTD is caused by a genetic mutation in the family. Mutations in a number of different genes can cause familial FTD. Three of the most common genes associated with familial FTD are called GRN, MAPT, and C9orf72. Mutations in these genes can cause a person to develop FTD at some point later in life, when they are an adult. Variations in the C9orf72 gene (also called a repeat expansion) can also cause increased risk for a disease called ALS (also known as Lou Gehrig’s disease). Study participants will receive genetic testing to look for mutations in the GRN, MAPT, and C9orf72 genes.
Genetic mutations have implications for both the individual being tested as well as their family members. For the individual, a gene mutation can confirm a diagnosis of familial FTD, establish the specific genetic cause, and provide an opportunity to participate in current or future clinical trials of potential therapies. Since genetic mutations are inherited, family members may also carry the same gene mutation that puts them at risk to develop FTD in the future.
What is genetic counseling?
Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:
- Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
- Education about inheritance, testing, management, prevention, resources and research.
- Counseling to promote informed choices and adaptation to the risk or condition.
InformedDNA and Alector collaboration
The PG FTD study is sponsored by Alector. Alector is a biotechnology company currently working to develop experimental therapies for FTD and other neurological diseases. Alector is a client of InformedDNA that funds the activities performed as part of the study. No personal identifying information of individuals referred to the study or individuals participating in the study will be shared with Alector. Individuals who test positive for a progranulin gene mutation may be eligible to participate in future Alector clinical trials.
Referral instructions
I am a healthcare provider and would like to refer my patient who meets the key eligibility criteria for this study:
- Use our convenient online submission process to refer your patient for the PG FTD study.
- Or, download the PG FTD study interest form and fax the completed form to our Patient Care team.
I am an individual with or at risk for FTD (or a caregiver of an individual with FTD) and I meet/the patient meets the key eligibility criteria for this study and would like more information:
- Use our convenient online submission process to request a consultation to learn more about the PG FTD study.
- Or, call (888) 266-4194 to speak with a member of our Patient Care team.
If you or if your patient does not meet the eligibility criteria for the PG FTD study, please use this link to request an appointment for genetic counseling or call (800) 975-4819 to speak with a member of our Patient Care team. Please note, genetic counseling and testing outside of the research study would not be covered by the sponsor and would be the patient’s responsibility.
