Microglia and a stem-cell gene therapy for Friedreich's ataxia
Official title: Microgial contribution and therapeutic potential in Friedreich's ataxia
Funded at University of California, San Diego · NIH-11239779 · Data updated 2026-11-12
This project is developing a gene-corrected blood stem-cell treatment to restore frataxin and help people with Friedreich's ataxia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | December 15, 2023 |
| Project end | November 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $581,440 |
| NIH project number | 5R01NS135162-03 |
| Project ID | NIH-11239779 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with genetically confirmed Friedreich's ataxia who can undergo stem-cell collection and the conditioning/transplant process would be the most likely candidates.
✕Less likely to help
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.
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.
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 gone: 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
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University of California, San Diego
La Jolla, United States Active
Researchers
- Principal investigator: Cherqui, Stephanie — University of California, San Diego
- Study coordinator: Cherqui, Stephanie
Related research
Other NIH-funded projects on the same topics.
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Modeling Ataxia Telangiectasia in a human stem cell model of Purkinje cells
Researchers are creating a patient-derived, human cell model of Purkinje cells to understand why this brain disease causes cerebellar degeneration in people with Ataxia Telangiectasia.
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VEGF-mimetic nanoparticles to help spinocerebellar ataxia type 1
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Understanding early Friedreich ataxia in children to improve how we measure outcomes
This study looks at how Friedreich ataxia starts and progresses in kids to create better, child-friendly measures for tracking the disease and testing treatments.
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Targeting FICD to Help Spinocerebellar Ataxia Type 3 (SCA3)
A brain-focused project tests whether blocking FICD, a protein in cells’ ER quality system, can slow or prevent damage in people (via animal and cell studies) who have spinocerebellar ataxia type 3.
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Understanding how unstable GAA repeats affect Friedreich’s ataxia progression
A study in adults and children with Friedreich’s ataxia will look at how changes in GAA repeat length inside the FXN gene relate to the disease’s start and progression.
-
Biomarkers to measure how well QTE therapy works for Friedreich's ataxia
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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.