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We have created a series of audio episodes, called the Rare Rundown, because rare diseases are complex, often misunderstood, and can feel isolating for patients and families. Our goal is simple: to provide clear, helpful information about rare diseases in short, focused episodes. By offering multiple formats for learning, we hope to help more patients (and their families) break through the isolation of the unknown when it comes to rare diseases.
Each week, we'll tackle topics that matter most to those living with rare conditions. We'll break down medical information, share practical insights, and bring together the experiences of patients, caregivers, and medical experts.
The first episode of the Rare Rundown is focused on frontotemporal dementia (FTD). The discussion covers what causes frontotemporal dementia, highlighting the role genetic variants play in FTD. In particular, this episode explores variants in the GRN gene. GRN is a gene 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. There are multiple clinical trials right now focused on treatment options for patients with FTD who have a variant in the GRN gene
The episode covers critical topics, including:
For comprehensive information regarding eligibility and updates on specific clinical trials for FTD, it's crucial to refer to the contact details provided in the sources.
For more information on frontotemporal dementia or the genetic variants in FTD, please explore our other blog posts on the topic.
Over 100,000 patients have created a profile with Probably Genetic to confirm their eligibility for our free genetic testing and counseling programs.
1. ClinicalTrials.gov. https://clinicaltrials.gov/study/NCT06064890
2. ClinicalTrials.gov. https://clinicaltrials.gov/study/NCT04747431
3. 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/
