Gene editing to treat Friedreich's Ataxia
Official title: Project 2: Therapeutic Gene Editing for Friedreich's Ataxia
Funded at Jackson Laboratory · NIH-11089354 · Data updated 2026-11-12
This study is exploring a new way to boost a protein called frataxin in people with Friedreich's Ataxia, a condition that affects the nervous system, by using a special delivery method to help improve their health and possibly slow down or even reverse the disease.
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 | 2025 |
| Award (this year) | $644,059 |
| NIH project number | 5U19NS132304-03 |
| Project ID | NIH-11089354 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 early symptoms of the disease.
✕Less likely to help
Patients with Friedreich's Ataxia who are in advanced stages of the disease or have atypical presentations may not benefit from this research.
What this research studies
This research focuses on developing a gene editing approach to increase the levels of frataxin protein in patients with Friedreich's Ataxia (FRDA), a genetic disorder that leads to progressive damage to the nervous system and other organs. The project aims to utilize adeno-associated viral vectors to deliver the necessary genetic material to affected tissues, potentially halting or reversing disease progression. By targeting the underlying genetic cause of FRDA, the research seeks to provide a more effective treatment option than current therapies, which only address symptoms.
Why it matters
Potential benefit: If successful, this research could significantly improve the quality of life and longevity for patients with Friedreich's Ataxia by addressing the root cause of the disease.
How similar studies have gone: Previous research has shown promise in using gene editing techniques for other genetic disorders, indicating potential for success in this novel approach for Friedreich's Ataxia.
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.