Enhancing newborn screening to better treat Krabbe, Pompe, and MPS I
Official title: Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of Treatment for Krabbe Disease, Pompe Disease, and Mucopolysaccharidosis Type 1
Funded at State University of New York at Buffalo · NIH-11387708 · Data updated 2026-11-12
A study to improve how newborns are screened for Krabbe disease, Pompe disease, and MPS I so that babies who need treatment are identified faster and more accurately.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | State University of New York at Buffalo NIH-funded |
| Lab location | 1 site (Amherst, United States) |
| Project start | March 18, 2022 |
| Project end | February 28, 2027 |
| Funding year | 2026 |
| Award (this year) | $616,228 |
| NIH project number | 5R01HD104814-05 |
| Project ID | NIH-11387708 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns who undergo routine screening and are being evaluated for KD, PD, or MPS I.
✕Less likely to help
Infants who are not identified by the BVNL method may not experience a change in their screening outcomes.
What this research studies
This project aims to refine the diagnostic approach used in newborn screening by focusing on two biomarkers in dried blood spots to reduce false positives and speed up correct diagnoses. It builds on prior work showing that combining psychosine levels with an enzyme marker can predict symptoms before they appear, potentially leading to earlier and more effective treatment. The study will evaluate and optimize the BVNL (two-biomarker) method in a larger newborn population to improve positive predictive value and reduce unnecessary interventions. Parents and clinicians could benefit from clearer results, fewer anxious false positives, and quicker access to therapy when needed.
Why it matters
Potential benefit: If successful, babies with KD, PD, or MPS I could start treatment sooner with fewer unnecessary procedures and less parental anxiety.
How similar studies have gone: Prior work showed a high PPV (98.5%) for the BVNL approach in KD, suggesting promising potential in expanding accuracy across the three diseases.
Where this research is happening
-
State University of New York at Buffalo
Amherst, United States Active
Researchers
- Principal investigator: Woo, Daniel — State University of New York at Buffalo
- Study coordinator: Woo, Daniel
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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.