Lowering overactive KCNQ3 to treat KCNQ3-related developmental disorder
Therapeutic Targeting of KCNQ3 in KCNQ3 Gain-of-Function Disorder
This project uses a gene-based approach to turn down overactive KCNQ3 in people with KCNQ3 gain-of-function neurodevelopmental disorders, including autism and absence seizures.
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-11384537 on NIH RePORTER |
What this research studies
Researchers are developing AAV-delivered microRNAs (miKCNQ3) designed to reduce expression of the overactive KCNQ3 potassium channel in the brain. They will test these gene-silencing tools in two different mouse models that carry the same human KCNQ3 gain-of-function mutations to study effects on seizures, behavior, and brain activity. The team will also evaluate safety and dosing in the animals to understand how the therapy might translate to people. If results are promising, the work would support moving toward human clinical trials aimed at modifying the underlying disease.
Who could benefit from this research
Good fit: People with a confirmed KCNQ3 gain-of-function mutation (especially mutations at R230) who have developmental delay, autism features, or absence seizures would be the most likely future candidates.
Not a fit: People without KCNQ3 gain-of-function mutations (including those with KCNQ3 loss-of-function or unrelated causes of autism or epilepsy) are unlikely to benefit from this approach.
Why it matters
Potential benefit: If successful, this approach could reduce seizures and improve developmental and autism-related symptoms by correcting KCNQ3 overactivity and pave the way for a disease-modifying therapy.
How similar studies have performed: AAV-based gene-silencing approaches have shown promise in animal models of other single-gene neurodevelopmental disorders, but targeting KCNQ3 gain-of-function is a new and primarily preclinical effort.
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.