Understanding biomarkers in patients with a specific genetic cause of ALS and frontotemporal dementia
Defining trajectories of dynamic biomarkers for C9ORF72 repeat expansion carriers
This study is looking at a specific genetic change that can lead to ALS and frontotemporal dementia, and it aims to help people with this mutation by finding better ways to diagnose and track their condition, involving 120 participants who have the mutation and their family members.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10390317 on NIH RePORTER |
What this research studies
This research investigates the C9ORF72 genetic mutation, which is linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). By analyzing the progression of biomarkers in individuals with this mutation, the study aims to improve diagnosis and treatment monitoring. It will involve 120 participants who carry the mutation, both symptomatic and presymptomatic, along with non-carrier family members, over three time points. The goal is to establish reliable biomarkers that can guide future clinical trials for new drug treatments.
Who could benefit from this research
Good fit: Ideal candidates include individuals who are carriers of the C9ORF72 mutation, both those showing symptoms of ALS or FTD and those who are presymptomatic.
Not a fit: Patients who do not carry the C9ORF72 mutation or have other forms of ALS or FTD may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and treatment monitoring for patients with ALS and FTD linked to the C9ORF72 mutation.
How similar studies have performed: Previous research has shown promising results in understanding the C9ORF72 mutation and its effects, indicating potential for success in this approach.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Lee, Suzee Eurie — University of California, San Francisco
- Study coordinator: Lee, Suzee Eurie
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.