Identifying treatments for ABCA3 deficiency in infants and children
Official title: High-Content Analysis to Accelerate Mechanistic and Therapeutic Identification for ABCA3 Deficiency
Funded at Washington University · NIH-11139142 · Data updated 2026-11-12
This study is looking at ways to create better treatments for kids with ABCA3 deficiency, a genetic condition that causes serious breathing problems, by examining how different gene changes affect lung function and finding personalized therapies that could help them breathe easier.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | June 1, 2025 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $155,500 |
| NIH project number | 1R03TR004845-01A1 |
| Project ID | NIH-11139142 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants and children diagnosed with ABCA3 deficiency or those with pathogenic variants in the ABCA3 gene.
✕Less likely to help
Patients with respiratory issues not related to ABCA3 deficiency or those without genetic variants in the ABCA3 gene may not benefit from this research.
What this research studies
This research focuses on understanding and developing targeted therapies for patients with ABCA3 deficiency, a genetic condition that leads to severe respiratory issues in infants and children. By using a specialized human lung cell line, the study aims to analyze how specific genetic variants affect lung function and to identify potential treatments that could improve patient outcomes. The approach involves high-content analysis to assess cellular responses and therapeutic effects, paving the way for personalized medicine tailored to individual genetic profiles.
Why it matters
Potential benefit: If successful, this research could lead to effective, personalized treatments for children suffering from ABCA3 deficiency, significantly improving their respiratory health.
How similar studies have gone: Previous research has successfully developed variant-specific therapies for other genetic conditions, suggesting a promising avenue for similar advancements in ABCA3 deficiency.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Wambach, Jennifer — Washington University
- Study coordinator: Wambach, Jennifer
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.