CHCHD10-linked frontotemporal dementia and ALS: how the protein causes damage and paths toward treatment
CHCHD10 Frontotemporal Dementia, Molecular Mechanisms and Therapeutic Strategies
['FUNDING_R01'] · WEILL MEDICAL COLL OF CORNELL UNIV · NIH-11174499
Researchers are looking at how mutated CHCHD10 protein forms harmful clumps in nerve cells and testing ways to stop that damage for people with CHCHD10-linked frontotemporal dementia or ALS.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WEILL MEDICAL COLL OF CORNELL UNIV (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11174499 on ClinicalTrials.gov |
What this research studies
This project focuses on a mitochondrial protein called CHCHD10 that can misfold and form amyloid fibrils linked to frontotemporal dementia and ALS. Scientists will use biochemical and high-resolution structural methods to define how disease mutations change the protein’s shape and interactions. They will compare fibrils made in the lab with those found in mouse models and human postmortem brain tissue and study how aggregation disrupts mitochondrial function and cellular metabolism. The team will also explore strategies to prevent aggregation or rescue mitochondrial stress pathways that lead to neuron loss.
Who could benefit from this research
Good fit: Ideal candidates would be people with confirmed CHCHD10 mutations or familial frontotemporal dementia/ALS and family members who can provide clinical data or donate tissue samples.
Not a fit: People with sporadic dementia or ALS that is not linked to CHCHD10 mutations may not receive direct benefit from findings specific to CHCHD10.
Why it matters
Potential benefit: If successful, the work could point to new therapies that block CHCHD10 aggregation or protect mitochondria, slowing or preventing neuron loss in affected patients.
How similar studies have performed: Prior laboratory studies have shown CHCHD10 can form amyloid fibrils and harm mitochondria, but translating these molecular findings into proven therapies remains novel and unproven.
Where this research is happening
NEW YORK, UNITED STATES
- WEILL MEDICAL COLL OF CORNELL UNIV — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: FUJITA, HIBIKI — WEILL MEDICAL COLL OF CORNELL UNIV
- Study coordinator: FUJITA, HIBIKI
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