Newborn tests to find and predict severity of inherited enzyme disorders
Official title: Development of Assays for Newborn Screening and for Post-Screening Evaluation of Disease Severity
Funded at University of Washington · NIH-11170704 · Data updated 2026-11-12
This project creates blood‑spot tests to detect certain inherited enzyme disorders in newborns and help predict how serious they might become.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 1, 1999 |
| Project end | August 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $565,959 |
| NIH project number | 5R01DK067859-25 |
| Project ID | NIH-11170704 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns in the first days to weeks of life, especially those undergoing routine newborn screening or who screen positive for enzyme‑related metabolic disorders.
✕Less likely to help
Older children or adults, and people with conditions not related to the specific enzyme deficiencies targeted here, would not directly benefit from these newborn screening assays.
What this research studies
If my newborn had a routine heel‑stick blood sample, this work would use a small punched dried blood spot to measure enzyme activities and disease biomarkers with tandem mass spectrometry. The team combines multiple assays in one test to screen for several conditions at once and adds a second‑stage test to cut down on false positives. They also compare how much residual enzyme function a baby has with later disease severity and likely age of symptom onset. The goal is to reduce unnecessary follow‑up, lower family anxiety, and guide earlier treatment decisions when needed.
Why it matters
Potential benefit: If successful, these tests could detect disorders earlier, reduce false positives and follow-up burdens, and help guide earlier or more tailored treatment for affected babies.
How similar studies have gone: Tandem mass spectrometry is already used successfully in newborn screening for many metabolic diseases, though applying it as a second‑stage test and to predict severity for these specific enzyme defects is more recent.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Gelb, Michael H — University of Washington
- Study coordinator: Gelb, Michael H
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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.