Early causes of frontotemporal dementia and motor neuron disease
Upstream pathogenesis in familial and sporadic frontotemporal dementia and motor neuron disease
['FUNDING_OTHER'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11246968
Researchers are using donated brain tissue from people with genetic and non-genetic frontotemporal dementia and motor neuron disease to find early changes that lead to TDP-43 protein problems.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11246968 on ClinicalTrials.gov |
What this research studies
If I or my loved one had frontotemporal dementia (FTD) or motor neuron disease (MND), researchers would study brain tissue donated after death from people with both C9orf72-related and sporadic (non-genetic) disease. They will use advanced staining (multiplex immunofluorescence), biochemical tests, and proteomics to map how dipeptide repeat proteins and TDP-43 interact and to find other proteins involved. The team will compare cases with lots of TDP-43 aggregates to rare cases that have severe symptoms but little TDP-43 to look for other drivers of disease. Findings will be linked to clinical records to see how the brain changes match symptom severity and function.
Who could benefit from this research
Good fit: Ideal candidates are people living with frontotemporal dementia or motor neuron disease — especially those with a C9orf72 mutation — or their families willing to consent to brain donation after death.
Not a fit: People without FTD/MND, those not eligible or willing to donate brain tissue, and patients seeking immediate treatment effects are unlikely to directly benefit from this tissue-based research.
Why it matters
Potential benefit: If successful, this work could point to new targets for therapies and improve understanding of why some people develop FTD/MND, guiding future diagnostics and treatments.
How similar studies have performed: Prior postmortem and proteomic studies have revealed TDP-43 changes and C9orf72 dipeptide repeat proteins, but combining multiplex immunofluorescence with biochemical and proteomic comparisons across rare case types is a relatively novel approach.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SEELEY, WILLIAM W — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: SEELEY, WILLIAM W
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.