AAV-based gene silencing for a rare brain disease in kids and adults
Official title: AAV-mediated gene silencing for the treatment of Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11453305 · Data updated 2026-11-12
A gene-silencing therapy using an AAV9-delivered amiRNA targets TUBB4A mutations to slow or stop the progression of H-ABC, a serious brain disease that affects movement.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $460,625 |
| NIH project number | 1R21NS146929-01A1 |
| Project ID | NIH-11453305 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with H-ABC or related TUBB4A-related leukodystrophies, across appropriate age ranges, who could participate in future translational steps or be eligible for related trials.
✕Less likely to help
Patients without H-ABC or without eligibility criteria for future translational steps may not benefit.
What this research studies
This project uses an AAV9 vector to deliver artificial microRNAs that reduce TUBB4A gene activity in the brain, with the goal of addressing the underlying cause of H-ABC. The approach is designed to affect neurons and oligodendrocytes where TUBB4A mutations disrupt brain structure and function. Research will focus on delivering the therapy in a way that could provide long-lasting benefits, aiming to slow disease progression and improve motor function. Because H-ABC is a rare pediatric-to-adult disorder, the work is framed to explore potential applicability across ages while prioritizing safety in the central nervous system.
Why it matters
Potential benefit: If successful, this approach could slow disease progression and improve motor skills for people with H-ABC.
How similar studies have gone: Previous gene-silencing strategies in CNS disorders have shown potential, but this exact approach for H-ABC is novel and exploratory.
Where this research is happening
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Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Xie, Jun — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Xie, Jun
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.