Detecting Metachromatic Leukodystrophy in Newborns
Official title: NEWBORN SCREENING PILOT STUDY FOR METACHROMATIC LEUKODYSTROPHY (MLD)
Funded at Nysdoh/health Research, INC. · NIH-11199664 · Data updated 2026-11-12
This study is testing a new way to check newborns for Metachromatic Leukodystrophy (MLD) and similar conditions right after they are born, so that if they have it, they can get help early and have a better chance at a healthier life.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Nysdoh/health Research, INC. NIH-funded |
| Lab location | 1 site (Menands, United States) |
| Project start | September 26, 2024 |
| Project end | September 25, 2026 |
| Funding year | 2024 |
| Award (this year) | $1,033,058 |
| NIH project number | 75N94021D00018-0-759402400001-1 |
| Project ID | NIH-11199664 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are newborns who are screened for metabolic and genetic disorders shortly after birth.
✕Less likely to help
Patients who are not newborns or those who do not have a family history of metabolic disorders may not benefit from this research.
What this research studies
This research aims to implement a newborn screening program to identify Metachromatic Leukodystrophy (MLD) and related conditions early in life. By screening newborns for specific genetic markers, the study seeks to provide timely interventions that can significantly improve health outcomes. The approach involves testing newborns shortly after birth, allowing for early diagnosis and potential treatment before symptoms develop. This proactive strategy is crucial as untreated MLD can lead to severe neurological damage and other disabilities.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnosis and treatment of Metachromatic Leukodystrophy, significantly improving the quality of life for affected infants.
How similar studies have gone: Previous research has shown success in early detection and treatment of similar metabolic disorders through newborn screening programs.
Where this research is happening
-
Nysdoh/health Research, INC.
Menands, United States Active
Researchers
- Principal investigator: Caggana, Michelle — Nysdoh/health Research, INC.
- Study coordinator: Caggana, Michelle
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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.