Testing a new gene therapy for a severe childhood brain disease
Official title: Pre-clinical testing of a novel gene therapy for pediatric neurodegenerative disease
Funded at Ut Southwestern Medical Center · NIH-11057384 · Data updated 2026-11-12
This study is testing a new gene therapy for children with neurodegenerative diseases caused by genetic changes, aiming to fix the problem at its source by delivering a healthy version of a specific gene to help improve their brain and muscle function.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | September 24, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $419,482 |
| NIH project number | 1R21NS137243-01A1 |
| Project ID | NIH-11057384 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with childhood-onset striatonigral degeneration or similar neurodegenerative conditions caused by recessive gene mutations.
✕Less likely to help
Patients with neurodegenerative diseases not caused by genetic mutations or those who are older than the targeted age group may not benefit from this research.
What this research studies
This research focuses on developing a gene therapy to treat pediatric neurodegenerative diseases caused by genetic mutations. It aims to deliver a functional copy of the VAC14 gene using an AAV9 virus, which can help restore normal cell function and potentially halt disease progression. The therapy is designed to address the underlying genetic issues rather than just managing symptoms, offering a more effective long-term solution for affected children. Patients will be monitored to assess the therapy's impact on their neurological and muscular health.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option that may halt or prevent the progression of severe pediatric neurodegenerative diseases.
How similar studies have gone: Recent advancements in gene therapy, such as the FDA approval for spinal muscular atrophy, suggest that similar approaches have shown success and could be promising for this research.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Rios, Jonathan — Ut Southwestern Medical Center
- Study coordinator: Rios, Jonathan
Related research
Other NIH-funded projects on the same topics.
-
Developing targeted therapies for Ewing sarcoma
This study is working on new treatments for Ewing sarcoma, a cancer that mainly affects kids and teens, by finding ways to target a specific protein that helps the cancer grow, so that we can offer safer and better options for those fighting this disease.
-
Neural roots of how autistic adults understand word meaning
A study to understand how adults with autism process word meanings in the brain, aiming to improve language support.
-
A new approach to healing NF1-related tibia fractures in children
This grant aims to understand why some NF1-related leg fractures in kids don’t heal well and to develop better treatments to help them recover without complications.
-
Multi-center study on how ventilation during CPR relates to cardiac arrest outcomes
A large, real-world study will look at how ventilation during CPR affects survival after out-of-hospital cardiac arrest in adults.
-
National Spina Bifida Patient Registry across the U.S.
A national registry collects health information from people with spina bifida to help doctors and families get better, more consistent care.
-
MONA-LISA: Understanding Why Autoimmune Signals Turn into Lupus Over Time
A study using data and samples from people with early autoimmune signs to understand why some develop full-blown lupus and others do not.
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.