Understanding the genetic causes of Prune Belly Syndrome
Official title: Prune Belly Syndrome: Mechanisms of Filamin A Mutations
Funded at Research Inst Nationwide Children's Hosp · NIH-10898081 · Data updated 2026-11-12
This study is looking into how changes in a specific gene might cause Prune Belly Syndrome, a condition that affects babies' urinary systems and muscles, using mice to help find better ways to understand and treat the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project start | November 30, 2022 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $429,225 |
| NIH project number | 5R01DK127589-06 |
| Project ID | NIH-10898081 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with Prune Belly Syndrome or those showing symptoms related to this condition.
✕Less likely to help
Patients with other unrelated congenital anomalies or those over the age of two may not benefit from this research.
What this research studies
This research investigates the genetic and molecular mechanisms behind Prune Belly Syndrome (PBS), a serious congenital condition affecting the urinary system and muscle development in infants. The study focuses on mutations in the filamin A gene, which plays a crucial role in cell structure and function. Researchers will use mouse models to explore how these mutations affect development and bladder function, employing advanced techniques to analyze the protein involved. The goal is to gain insights that could lead to better understanding and treatment options for affected children.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment strategies for infants with Prune Belly Syndrome.
How similar studies have gone: Previous research has shown promising results in understanding genetic conditions through similar genetic and molecular approaches, indicating potential for success in this area.
Where this research is happening
-
Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Baker, Linda a. — Research Inst Nationwide Children's Hosp
- Study coordinator: Baker, Linda 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.