Microglia and a stem-cell gene therapy for Friedreich's ataxia
Microgial contribution and therapeutic potential in Friedreich's ataxia
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN DIEGO · NIH-11239779
This project is developing a gene-corrected blood stem-cell treatment to restore frataxin and help people with Friedreich's ataxia.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN DIEGO (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11239779 on ClinicalTrials.gov |
What this research studies
From a patient's perspective, researchers are using CRISPR to correct the frataxin gene in a person's own hematopoietic (blood) stem cells and preparing those cells for transplant so they can become microglia-like cells in the brain. In mouse models, a single infusion of wild-type HSPCs fixed neurological, muscle, and heart problems, and the team is now doing the safety and regulatory (IND-enabling) work needed to move toward people. The lab is also studying how transplanted microglia-like cells transfer frataxin to neurons and how microglial replacement contributes to tissue rescue. These steps aim to bring an autologous cell- and gene-based therapy into early clinical testing.
Who could benefit from this research
Good fit: People with genetically confirmed Friedreich's ataxia who can undergo stem-cell collection and the conditioning/transplant process would be the most likely candidates.
Not a fit: People without FRDA, those who are too frail or have medical conditions that make bone marrow/stem-cell transplant unsafe, or those with irreversible late-stage damage may not benefit.
Why it matters
Potential benefit: If successful, this approach could replace defective frataxin in affected tissues and potentially reverse or halt neurological, muscular, and cardiac damage in FRDA patients.
How similar studies have performed: Preclinical mouse studies showed dramatic correction of symptoms after a single HSPC infusion, but the autologous CRISPR-corrected HSPC transplant approach is novel and has not yet been tested in people.
Where this research is happening
LA JOLLA, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN DIEGO — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHERQUI, STEPHANIE — UNIVERSITY OF CALIFORNIA, SAN DIEGO
- Study coordinator: CHERQUI, STEPHANIE
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.