Targeting a gene mutation linked to a type of epilepsy and intellectual disability
Therapeutic Targeting of KCNQ3 in KCNQ3 Gain-of-Function Disorder
This study is looking at a specific gene change that can cause challenges for people with intellectual disabilities and autism, and it’s testing a new treatment that uses gene therapy to help improve their symptoms.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10791988 on NIH RePORTER |
What this research studies
This research focuses on a specific genetic mutation in the KCNQ3 gene that is associated with a syndrome affecting individuals with intellectual disabilities and autism. The approach involves using gene therapy to inhibit the KCNQ3 gene in the central nervous system, which may help in treating the associated symptoms of this disorder. By delivering targeted microRNAs through viral vectors, the researchers aim to reduce the expression of the KCNQ3 gene and potentially modify the disease course. The study will utilize novel mouse models that mimic human conditions to test the effectiveness of this therapeutic strategy.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with KCNQ3 Gain-of-Function Neurodevelopmental Disorder, particularly those experiencing symptoms related to epilepsy and intellectual disability.
Not a fit: Patients without the specific KCNQ3 gene mutation or those with other types of epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a new treatment option that modifies the underlying cause of KCNQ3 Gain-of-Function Neurodevelopmental Disorder.
How similar studies have performed: Other research has shown promise in using gene therapy approaches for similar genetic disorders, indicating potential for success in this novel application.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Sands, Tristan T — Columbia University Health Sciences
- Study coordinator: Sands, Tristan T
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.