Investigating a new target for treating frontal temporal dementia
Implicating the major G-quadruplex helicase, DHX36, as a novel pathogenic modifier of C9ORF72 frontal temporal dementia
['FUNDING_R15'] · BALL STATE UNIVERSITY · NIH-10974535
This study is looking into how a gene mutation related to frontotemporal dementia affects brain cells, and it’s exploring a special enzyme that might help reduce harmful proteins, with the hope of finding new treatments for people living with this condition.
Quick facts
| Phase | ['FUNDING_R15'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BALL STATE UNIVERSITY (nih funded) |
| Locations | 1 site (MUNCIE, UNITED STATES) |
| Trial ID | NIH-10974535 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding the molecular mechanisms behind frontal temporal dementia (FTD), particularly how a mutation in the C9ORF72 gene contributes to the disease. The study explores the role of a specific enzyme, DHX36, which unwinds harmful DNA and RNA structures known as G-quadruplexes that are linked to neuron degeneration. By examining how DHX36 affects the production of toxic proteins in stressed cells, the researchers aim to develop a novel treatment strategy for FTD. This innovative approach could lead to new therapeutic options for patients suffering from this debilitating condition.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with frontal temporal dementia or those carrying the C9ORF72 mutation.
Not a fit: Patients with other forms of dementia unrelated to the C9ORF72 mutation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that slow or prevent the progression of frontal temporal dementia.
How similar studies have performed: While the specific approach of targeting DHX36 in FTD is novel, similar strategies targeting G-quadruplexes have shown promise in other neurological conditions.
Where this research is happening
MUNCIE, UNITED STATES
- BALL STATE UNIVERSITY — MUNCIE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SMALDINO, PHILIP J — BALL STATE UNIVERSITY
- Study coordinator: SMALDINO, PHILIP J
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's disease and related dementia, Alzheimer's disease and related disorders, Alzheimer's disease or a related dementia, Alzheimer's disease or a related disorder, Alzheimer's disease or related dementia