Metabolic-ISR Pathway in C9orf72 ALS/FTD and Potential Treatments
Official title: Role of the Metabolic Homeostasis-ISR Axis in C9orf72-ALS/FTD
Funded at Thomas Jefferson University · NIH-11465622 · Data updated 2026-11-12
A study exploring how brain energy stress and the ISR pathway connect to a common ALS/FTD gene change, with the goal of finding new ways to help people with these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2026 |
| Project end | July 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $653,174 |
| NIH project number | 1R01NS146192-01A1 |
| Project ID | NIH-11465622 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with ALS or FTD caused by C9orf72 expansions or at risk due to family history may benefit from future trials linked to these findings.
✕Less likely to help
People without the C9orf72 expansion or without ALS/FTD symptoms may not directly benefit.
What this research studies
This project looks at how a genetic change linked to ALS/FTD causes metabolic stress in brain cells and activates the integrated stress response. Using animal models and human tissue insights, researchers will connect glucose metabolism, ISR signaling, and the production of abnormal proteins to disease progression. The team plans experiments that may reveal whether dialing down ISR activity or reducing stress signals could slow or alter disease pathways. Results could point to new therapeutic angles for individuals carrying the C9orf72 expansion.
Why it matters
Potential benefit: If successful, the work could identify new targets to slow or modify disease progression for people with C9orf72-related ALS/FTD.
How similar studies have gone: Prior work has linked ISR activation and metabolic stress to neurodegenerative processes, with some approaches showing potential in preclinical models; this study advances toward translational relevance.
Where this research is happening
-
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.