Blocking the p38 stress protein to help people with Friedreich ataxia
p38 MAPK activation as a therapeutic target for Friedreich ataxia
Looks at whether blocking the p38 stress-response protein can improve cell health and reduce nerve and heart damage in people with Friedreich ataxia.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11325344 on NIH RePORTER |
What this research studies
From a patient point of view, researchers are studying why cells lacking enough frataxin (the problem in Friedreich ataxia) activate a stress signal called p38 and how that makes mitochondrial iron-sulfur cluster production worse. In the lab they will lower p38 activity directly or reduce what activates it (for example by cutting oxidative damage or DNA damage signaling) and measure whether iron-sulfur cluster biogenesis and cell function improve. The work uses patient-derived cells and model systems, and it tests drug-like inhibitors of p38 and its downstream partner MK2 as well as approaches to reduce lipid peroxidation and DNA damage. Findings could point to treatments or future clinical trials aimed at protecting nerves and heart muscle in FA.
Who could benefit from this research
Good fit: People with genetically confirmed Friedreich ataxia (frataxin deficiency), especially those with nerve or heart involvement, would be the eventual candidates for therapies developed from this work.
Not a fit: Patients whose ataxia is caused by conditions unrelated to frataxin or those with advanced, irreversible tissue loss may be unlikely to benefit from these specific approaches.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that restore mitochondrial function and slow or prevent neurological and cardiac decline in Friedreich ataxia.
How similar studies have performed: Previous cell and animal studies indicate that blocking p38 or reducing oxidative stress can reverse some FA-related defects, but this approach has not yet been proven in human patients.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Wilson, Robert B — Children's Hosp of Philadelphia
- Study coordinator: Wilson, Robert B
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 below.