Identifying biomarkers for Niemann-Pick Type C disease
Clinically Relevant Biomarkers for Niemann-Pick Type C
This study is looking at Niemann-Pick Type C, a genetic condition that affects the brain and has no current treatments, to find helpful markers that show how the disease progresses and how well potential treatments might work, which could lead to better care and support for families.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Illinois at Chicago NIH-funded |
| Lab location | 1 site (Chicago, UNITED STATES) |
| Project ID | NIH-11177320 on NIH RePORTER |
What this research studies
This research focuses on Niemann-Pick Type C (NPC), a genetic disorder that leads to progressive neurodegeneration and currently has no approved treatments. The team aims to identify and validate biomarkers that can provide insights into disease progression and therapeutic responses. By analyzing a larger cohort of biospecimens, they will develop methods to evaluate these biomarkers, which could help in stratifying patients for future clinical trials and improving parental counseling. The ultimate goal is to enhance understanding of NPC and facilitate the development of effective therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Niemann-Pick Type C or those at risk due to family history.
Not a fit: Patients with other lysosomal storage disorders or those without a diagnosis of Niemann-Pick Type C may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted therapies for patients with Niemann-Pick Type C.
How similar studies have performed: Previous research has shown promise in identifying biomarkers for other lysosomal storage disorders, suggesting potential success for this approach in NPC.
Where this research is happening
Chicago, UNITED STATES
- University of Illinois at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Cologna, Stephanie M — University of Illinois at Chicago
- Study coordinator: Cologna, Stephanie M
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 below.