C9orf72-linked ALS and frontotemporal dementia pathways
Investigating the Novel Disease Pathways Associated with C9orf72-Linked ALS/FTD
['FUNDING_R01'] · JOHNS HOPKINS UNIVERSITY · NIH-11330215
Learning how a change in the C9orf72 gene leads to nerve-cell damage in people with ALS or frontotemporal dementia so new treatments can be found.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | JOHNS HOPKINS UNIVERSITY (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11330215 on ClinicalTrials.gov |
What this research studies
This research looks inside nerve cells to see what the C9orf72 gene does and how its repeat expansion harms neurons. Scientists use patient-derived cells, laboratory models, and molecular experiments to track where the C9orf72 protein and abnormal RNAs or peptides go in cells and how they cause toxicity. The team aims to connect these cellular problems to the nerve-cell loss and symptoms seen in ALS and FTD. Findings will point to biological targets that could be tested in future patient-directed therapies.
Who could benefit from this research
Good fit: Ideal candidates would be people diagnosed with ALS or FTD who carry the C9orf72 repeat expansion or those willing to donate samples linked to that genetic change.
Not a fit: People without ALS or FTD or those whose disease is not linked to the C9orf72 mutation are unlikely to receive direct benefits from this project.
Why it matters
Potential benefit: If successful, the work could reveal specific disease mechanisms that lead to new targeted therapies for people with C9orf72-linked ALS or FTD.
How similar studies have performed: Prior laboratory and model-system studies have shown that C9orf72 repeats produce toxic RNAs and proteins and reproduce some disease features, but no proven patient treatments have yet emerged from this work.
Where this research is happening
BALTIMORE, UNITED STATES
- JOHNS HOPKINS UNIVERSITY — BALTIMORE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WANG, JIOU — JOHNS HOPKINS UNIVERSITY
- Study coordinator: WANG, JIOU
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, Amyotrophic Lateral Sclerosis Motor Neuron Disease