Improving diagnosis of Alagille Syndrome
Official title: Resolving Uncertainty in Alagille Syndrome Diagnostics
Funded at Children's Hosp of Philadelphia · NIH-11134517 · Data updated 2026-11-12
This study is working to improve how we understand and diagnose Alagille Syndrome in children by figuring out which gene changes are harmful and how serious the condition might be for each child, so that doctors can provide better care tailored to their needs.
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 start | July 1, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $616,391 |
| NIH project number | 5R01DK134585-03 |
| Project ID | NIH-11134517 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children diagnosed with Alagille Syndrome or those with suspected genetic variants related to the condition.
✕Less likely to help
Patients without a diagnosis of Alagille Syndrome or those whose conditions are unrelated to the genetic factors being studied may not benefit from this research.
What this research studies
This research focuses on enhancing the accuracy of genomic diagnostics for Alagille Syndrome, a genetic disorder that affects multiple organs in children. It aims to clarify whether certain DNA variants are harmful or benign and to better predict the severity of the disease in affected individuals. By developing specialized assays to analyze gene mutations in the JAG1 and NOTCH2 genes, the research seeks to resolve existing uncertainties in diagnosis and improve patient care. This work is particularly important given the variability in how the syndrome manifests in different patients.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and better management strategies for patients with Alagille Syndrome.
How similar studies have gone: Previous research has shown promise in improving genomic diagnostics for other genetic disorders, suggesting that this approach could yield valuable insights for Alagille Syndrome as well.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Spinner, Nancy Bettina — Children's Hosp of Philadelphia
- Study coordinator: Spinner, Nancy Bettina
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.