Exploring gene therapy to improve movement in children with CTNNB1 syndrome
Official title: Defining the Potential of Gene Therapy to Correct Motor Disabilities of CTNNB1 Syndrome Using in Vivo Mouse and in Vitro Human Cell Models
Funded at Tufts University Boston · NIH-10809254 · Data updated 2026-11-12
This study is exploring a new gene therapy to help children with CTNNB1 syndrome improve their ability to walk and do everyday activities by boosting a missing protein in their muscles.
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 25, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $453,750 |
| NIH project number | 1R21NS131841-01A1 |
| Project ID | NIH-10809254 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with CTNNB1 syndrome who experience significant motor disabilities.
✕Less likely to help
Patients with other genetic disorders unrelated to CTNNB1 syndrome may not benefit from this research.
What this research studies
This research investigates the potential of gene therapy to treat motor disabilities associated with CTNNB1 syndrome, a condition that severely affects children's ability to walk and perform daily activities. By using advanced mouse models and human cell cultures, the researchers aim to deliver a gene therapy that can restore the levels of a crucial protein, β-catenin, which is deficient in affected individuals. The study will utilize innovative delivery methods to ensure the therapy reaches the necessary muscle tissues effectively. If successful, this approach could provide a new avenue for treatment where none currently exists.
Why it matters
Potential benefit: If successful, this research could lead to improved mobility and quality of life for children suffering from CTNNB1 syndrome.
How similar studies have gone: Previous studies have shown promising results using similar gene therapy approaches in other neuromuscular conditions, indicating potential for success in this novel application.
Where this research is happening
-
Tufts University Boston
Boston, United States Active
Researchers
- Principal investigator: Jacob, Michele H. — Tufts University Boston
- Study coordinator: Jacob, Michele H.
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.