How brain immune cells (microglia) affect C9orf72-linked ALS and frontotemporal dementia
Microglia contribution to disease pathogenesis in C9orf72 ALS/FTD
['FUNDING_R01'] · ST. JOSEPH'S HOSPITAL AND MEDICAL CENTER · NIH-11159585
Researchers are looking at whether brain immune cells called microglia cause synapse loss and thinking or behavior problems in people with C9orf72-linked ALS and frontotemporal dementia.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ST. JOSEPH'S HOSPITAL AND MEDICAL CENTER (nih funded) |
| Locations | 1 site (PHOENIX, UNITED STATES) |
| Trial ID | NIH-11159585 on ClinicalTrials.gov |
What this research studies
If you or a family member have the C9orf72 genetic change linked to ALS or frontotemporal dementia, this work studies how your brain's immune cells (microglia) might drive loss of connections between nerve cells that relate to thinking and behavior. The team will examine human brain tissue and compare findings across genetic subgroups, and they will use laboratory models to observe microglia–neuron interactions and test how changing microglia behavior affects synapses. By comparing C9orf72 cases to other genetic forms, they aim to find whether specific microglia changes explain the cognitive symptoms and point to targets for future therapies.
Who could benefit from this research
Good fit: Ideal candidates would be people with ALS or frontotemporal dementia who carry the C9orf72 mutation or family members willing to contribute clinical information or brain/tissue donations.
Not a fit: People whose dementia is caused by unrelated conditions or who do not carry C9orf72 changes are less likely to see direct benefits from this specific research.
Why it matters
Potential benefit: If successful, this work could identify microglia-related targets to protect synapses and slow cognitive decline for people with C9orf72-linked ALS/FTD.
How similar studies have performed: Previous studies show microglia activation and increased synapse loss in dementia and ALS with cognitive symptoms, but microglia-targeted treatments remain largely unproven in humans.
Where this research is happening
PHOENIX, UNITED STATES
- ST. JOSEPH'S HOSPITAL AND MEDICAL CENTER — PHOENIX, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SATTLER, RITA — ST. JOSEPH'S HOSPITAL AND MEDICAL CENTER
- Study coordinator: SATTLER, RITA
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.
Conditions: Alzheimer disease dementia, Alzheimer syndrome, Alzheimer's Disease, Alzheimer's disease and related dementia, Alzheimer's disease and related disorders