Replacing brain cells to treat a rare genetic disorder in children
Microglia replacement using engineered HSCs for treatment of leukodystrophies
This study is looking at a new way to help children with globoid cell leukodystrophy (GLD) by using special stem cells that have been changed to fix the problem in their brains, aiming to make them feel better and have a better quality of life.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11050712 on NIH RePORTER |
What this research studies
This research focuses on treating globoid cell leukodystrophy (GLD), a severe neurodegenerative disease in children caused by a genetic mutation. The approach involves using genetically modified hematopoietic stem cells (HSCs) to replace dysfunctional brain cells with healthy ones that can produce the necessary enzyme to mitigate disease effects. By enhancing the engraftment of these modified cells in the brain, the research aims to improve treatment outcomes compared to current methods, which often have limitations and risks. Patients may receive these modified cells through transplantation or direct delivery into the brain.
Who could benefit from this research
Good fit: Ideal candidates for this research are infants and young children diagnosed with globoid cell leukodystrophy who may benefit from innovative stem cell therapies.
Not a fit: Patients with advanced stages of globoid cell leukodystrophy or those who do not have a genetic mutation affecting GALC may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a safer and more effective treatment option for children suffering from GLD, potentially improving their quality of life and disease outcomes.
How similar studies have performed: Previous research has shown promise in using genetically modified stem cells for treating similar neurodegenerative conditions, indicating potential for success in this novel approach.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Bennett, Frederick — University of Pennsylvania
- Study coordinator: Bennett, Frederick
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.