Therapeutic Gene Editing for Friedreich’s Ataxia
Official title: Project 2: Therapeutic Gene Editing for Friedreich's Ataxia
Funded at Jackson Laboratory · NIH-11326250 · Data updated 2026-11-12
A gene-editing approach using AAV-based delivery aims to boost frataxin (FXN) protein in Friedreich’s Ataxia patients, potentially slowing disease progression.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | May 16, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $551,510 |
| NIH project number | 5U19NS132304-04 |
| Project ID | NIH-11326250 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with Friedreich’s Ataxia, especially those with confirmed FXN deficiency and a need for therapies that address the underlying cause.
✕Less likely to help
The findings may not benefit individuals whose disease is driven by factors unrelated to FXN expression or who are not eligible for future clinical trials.
What this research studies
If you or a child with Friedreich’s Ataxia could benefit from a future therapy, this project explores a gene-editing strategy delivered by a viral carrier to increase FXN protein levels in affected tissues. Researchers at The Jackson Laboratory plan to test approaches that may lift FXN expression and help neurons and heart tissue function better, with a focus on safety and feasibility in preclinical models. The work is designed to move toward a therapy that could be used in people who have FRDA, though it will go through rigorous testing stages before any treatment is available. The project emphasizes understanding how to deliver the therapy efficiently and monitor potential effects on the nervous system and heart. If successful, it could open doors to a meaningful treatment option for FRDA patients in the future.
Why it matters
Potential benefit: If successful, this research could lead to a therapy that increases FXN protein and slows FRDA progression.
How similar studies have gone: Other gene-editing and gene-delivery approaches for FRDA are under investigation with growing promise, but results in humans remain preliminary.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Liu, David R — Jackson Laboratory
- Study coordinator: Liu, David R
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.
-
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.