Understanding how unstable GAA repeats affect Friedreich’s ataxia progression
Official title: Somatic instability of GAA repeats in pathogenesis of Friedreich’s ataxia
Funded at Ut Southwestern Medical Center · NIH-11432740 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | September 2, 2026 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $656,837 |
| NIH project number | 1R01NS150687-01 |
| Project ID | NIH-11432740 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults and children with Friedreich’s ataxia who have known GAA repeat expansions in the FXN gene.
✕Less likely to help
People without Friedreich’s ataxia or without evidence of GAA repeat expansions may not benefit from this research.
What this research studies
This project examines why Friedreich’s ataxia symptoms vary so much among patients by studying somatic changes in GAA repeat length in tissues. Researchers will use patient samples and longitudinal data to track GAA instability and its association with disease features, including age of onset and severity. The goal is to identify biological factors that influence how the disease progresses and to understand how repeat dynamics might be targeted in future therapies.
Why it matters
Potential benefit: If successful, the work could lead to better prediction of disease course and inform new strategies to modify disease progression.
How similar studies have gone: Previous studies have shown somatic GAA instability in patient tissues, indicating this is a promising area for further discovery.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Napierala, Marek — Ut Southwestern Medical Center
- Study coordinator: Napierala, Marek
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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.