Investigating the role of microglia in Friedreich's ataxia and potential therapies
Official title: Microgial contribution and therapeutic potential in Friedreich's ataxia
Funded at University of California, San Diego · NIH-11001193 · Data updated 2026-11-12
This study is looking at a new way to help people with Friedreich's ataxia by using healthy stem cells to fix the problems caused by the disease, with the hope of finding a treatment that could make life better for patients.
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 | 2025 |
| Award (this year) | $526,660 |
| NIH project number | 5R01NS135162-02 |
| Project ID | NIH-11001193 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Friedreich's ataxia, particularly those who are experiencing significant neurological and muscular symptoms.
✕Less likely to help
Patients with Friedreich's ataxia who are not eligible for stem cell transplantation or those with advanced disease may not benefit from this research.
What this research studies
This research focuses on Friedreich's ataxia (FRDA), a genetic disorder that leads to severe neurological and muscular complications. The team is exploring a novel therapy involving the transplantation of healthy hematopoietic stem and progenitor cells (HSPCs) to correct the underlying genetic defect. By studying how these cells can rescue damaged neurons through microglial support, the research aims to develop a potential treatment for this currently untreatable condition. Patients may benefit from insights into new therapeutic strategies that could improve their quality of life.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment for Friedreich's ataxia, potentially reversing neurological and muscular damage.
How similar studies have gone: While the approach of using HSPC transplantation is promising, the specific application to Friedreich's ataxia is relatively novel and has not been extensively tested in clinical settings.
Where this research is happening
-
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
A new, patient-friendly approach is being developed to deliver a VEGF-like therapy using tiny particles that could protect brain cells in 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.
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Biomarkers to measure how well QTE therapy works for Friedreich's ataxia
Aiming to find blood and muscle signals that show whether a new FRDA treatment (QTE therapy) is working.
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.