GSK3 inhibitor therapy to correct CTNNB1 syndrome in patient-derived neurons
Official title: Defining the potential of GSK3 inhibition in correcting the molecular phenotypes of CTNNB1 syndrome patient derived glutamatergic neurons.
Funded at Tufts University Boston · NIH-11453845 · Data updated 2026-11-12
A small molecule drug that targets GSK3 could help correct brain cell problems in people with CTNNB1 syndrome.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Tufts University Boston NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $453,750 |
| NIH project number | 1R21NS144529-01A1 |
| Project ID | NIH-11453845 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with CTNNB1 syndrome or related β-catenin dysregulation conditions, especially those with developmental delay and intellectual disability.
✕Less likely to help
Patients without CTNNB1-related neurodevelopmental issues or those unlikely to respond to β-catenin–targeted approaches may not benefit.
What this research studies
CTNNB1 syndrome causes severe developmental delays and lifelong learning and movement challenges. This project uses patient-derived neurons and mouse models to test a highly selective GSK3 inhibitor that may normalize β-catenin biology and related cellular phenotypes. If these models respond well, the work could pave the way for targeted therapies that address the underlying molecular dysregulation in CTNNB1 syndrome. The study aims to move from preclinical evidence toward strategies that could benefit patients in the future.
Why it matters
Potential benefit: If successful, this work could lead to a targeted treatment that improves brain cell function and daily abilities for people with CTNNB1 syndrome.
How similar studies have gone: Preclinical models have shown that selective GSK3 inhibitors can normalize β-catenin levels and related phenotypes in CTNNB1 models, supporting this approach though human data are not yet available.
Where this research is happening
-
Tufts University Boston
Boston, United States Active
Researchers
- Principal investigator: Alexander, Jonathan — Tufts University Boston
- Study coordinator: Alexander, Jonathan
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.