Investigating treatments for Fragile X Syndrome and its effects on behavior and cognition
Official title: Mitochondrial dysfunction in Fragile X: Mechanisms and treatments
Funded at University of Pennsylvania · NIH-11093925 · Data updated 2026-11-12
This study is looking at ways to help people with Fragile X Syndrome by testing different treatments that might improve their behavior and memory, using animal models to see how restoring certain body functions can make a difference.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $524,125 |
| NIH project number | 5R01NS129903-03 |
| Project ID | NIH-11093925 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults diagnosed with Fragile X Syndrome or related autism spectrum disorders.
✕Less likely to help
Patients without a diagnosis of Fragile X Syndrome or those with unrelated cognitive or behavioral conditions may not benefit from this research.
What this research studies
This research focuses on Fragile X Syndrome (FXS), a leading cause of intellectual disability and autism, by exploring the underlying mechanisms of mitochondrial dysfunction. Using animal models, including Drosophila and mice, the study examines how restoring certain biochemical pathways can improve behavioral and cognitive symptoms associated with FXS. The researchers are testing various treatments, such as PDE4 inhibitors and metformin, to see if they can reverse deficits in behavior and memory. The goal is to translate these findings into potential clinical applications for patients with FXS.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve cognitive and behavioral outcomes for individuals with Fragile X Syndrome.
How similar studies have gone: Previous research has shown promising results in using similar biochemical approaches to improve symptoms in animal models of Fragile X Syndrome.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Jongens, Thomas a — University of Pennsylvania
- Study coordinator: Jongens, Thomas a
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.