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Frontotemporal dementia (FTD) often presents a diagnostic challenge due to overlapping symptoms with psychiatric diseases and other forms of dementia. This difficulty is compounded by the presence of various FTD subtypes, each impacting distinct brain regions. While behavioral and environmental interventions are currently the mainstay of FTD management, research is actively exploring potential treatments, especially for those with genetically linked FTD.
Genetic variants play a significant role in FTD, with 15-20% of patients exhibiting an identifiable genetic cause.1,2 This understanding is crucial as an increasing number of FTD clinical trials prioritize individuals with a confirmed genetic diagnosis for participation.
While the exact genetic underpinnings of FTD are complex and can vary, some of the most commonly implicated genes include:
This gene provides instructions for creating the tau protein, a crucial component of the brain's structural support system. Mutations in MAPT can lead to abnormal tau accumulation, disrupting neuronal function.
This gene's function remains somewhat unclear, but mutations in C9orf72 are frequently linked to both FTD and amyotrophic lateral sclerosis (ALS). These mutations often result in the production of toxic proteins that damage nerve cells.
This gene is responsible for producing progranulin, a protein vital for various cellular processes, including the growth, survival, and function of neurons. Mutations in GRN lead to reduced progranulin levels, increasing the risk of developing FTD.
It is important to note that this list is not exhaustive, and other genetic variants may also contribute to FTD. Genetic testing is crucial to determine the specific genetic variant involved, allowing for informed decisions regarding clinical trial participation.
An estimated 5% of individuals with FTD have a variant in the GRN gene. These variants, essentially "typos" in the genetic code, disrupt the production of progranulin, a protein essential for brain health.2 Progranulin helps maintain the normal functioning of brain cells as we age. When GRN variants lead to low progranulin levels, degeneration in the frontal and/or temporal lobes of the brain may occur, ultimately manifesting as FTD symptoms.
GRN-related FTD has been generating a lot of buzz lately because there are multiple clinical trials focused on treatment options for patients with FTD who have a variant in the GRN gene. Below are three ongoing FTD clinical trials.
Overview: This study investigates AVB-101, a gene therapy designed to restore progranulin levels in the brain. This experimental treatment involves a one-time delivery of AVB-101 directly into the brain via a minimally invasive surgical procedure.3
Eligibility: Individuals aged 30-75 with confirmed FTD-GRN diagnosis, a supportive caregiver, and fulfilling other study criteria.
Study Design: The study involves a screening/baseline period, the surgical procedure, and follow-up visits over 5 years and 3 months to monitor health, progranulin levels, and FTD symptoms.
Overview: This trial focuses on PBFT02, a gene therapy aiming to replace the defective GRN gene with a functional copy. PBFT02 is administered as a single injection into the cisterna magna, located at the back of the neck.4
Eligibility: Individuals aged 35-75 with a documented GRN mutation, FTD diagnosis, FTD-related symptoms, community living, and a reliable caregiver.
Study Design: The study involves approximately 16 visits over 5 years, including assessments such as blood tests, medical examinations, questionnaires, brain imaging, and lumbar punctures.
Overview: This study evaluates PR006, a one-time gene therapy designed to address the root genetic cause of FTD-GRN. It utilizes a modified virus as a vector to deliver a functional progranulin gene.5
Eligibility: Individuals aged 30-80 with confirmed FTD and a disease-causing GRN mutation, exhibiting FTD symptoms, and a reliable caregiver.
Study Design: This five-year study comprises 20 visits, including a three-day inpatient visit, and involves assessments like blood tests, imaging scans, and lumbar punctures.
The development of these GRN-specific FTD clinical trials signifies a major step toward targeted therapies for genetically linked FTD. These studies offer hope for individuals and families affected by this debilitating condition.
For comprehensive information regarding eligibility and updates on specific clinical trials, it's crucial to refer to the contact details provided in the sources. It's important to acknowledge that participation in one trial might influence eligibility for subsequent studies.
If you or a loved one has already received a clinical diagnosis, consider getting a genetic test to better understand risks and take proactive steps to manage frontotemporal dementia. Your provider may be able to order genetic testing for you and, in some circumstances, insurance may cover some or all of your testing.
If you do not have access to a physician or adequate health insurance coverage for testing, Probably Genetic offers free genetic testing and genetic counseling services for patients who have received a clinical diagnosis of FTD. We also offer these services to family members of patients who have been genetically tested already and have a confirmed diagnosis of GRN-related FTD.
3. ClinicalTrials.gov. https://clinicaltrials.gov/study/NCT06064890
4. ClinicalTrials.gov. https://clinicaltrials.gov/study/NCT04747431
5. FEATURED STUDY: PROCLAIM - A Study of PR006 with FTD-GRN - FTD Disorders Registry. FTD Disorders Registry. Published May 29, 2024. https://ftdregistry.org/press/featured-study-proclaim-a-study-of-pr006-with-ftd-grn/
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