Investigating how a specific cellular pathway contributes to neurodegenerative diseases like ALS and FTD.
Role of the TE-cGAS-STING pathway in C9orf72-ALS/FTD pathogenesis
['FUNDING_R01'] · THOMAS JEFFERSON UNIVERSITY · NIH-11058785
This study is looking at how certain genetic changes might cause problems in brain cells that lead to diseases like ALS and frontotemporal dementia, and it's for anyone interested in understanding what happens in these conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | THOMAS JEFFERSON UNIVERSITY (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11058785 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the role of the TE-cGAS-STING pathway in the development of neurodegenerative diseases, particularly C9orf72-associated amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The researchers will explore how genomic instability and the mobilization of transposable elements affect neuronal function and contribute to disease progression. By studying patient-derived induced pluripotent stem cells, they aim to uncover the mechanisms that lead to neuroinflammation and neuronal death, which are critical in these conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with C9orf72-associated ALS or FTD.
Not a fit: Patients with neurodegenerative diseases not associated with the C9orf72 gene may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies that target the underlying mechanisms of ALS and FTD, potentially improving patient outcomes.
How similar studies have performed: Previous research has shown promising results in understanding similar pathways in neurodegenerative diseases, indicating potential for success in this novel approach.
Where this research is happening
PHILADELPHIA, UNITED STATES
- THOMAS JEFFERSON UNIVERSITY — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TROTTI, DAVIDE — THOMAS JEFFERSON UNIVERSITY
- Study coordinator: TROTTI, DAVIDE
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.