Blocking enzymes that produce psychosine to treat Krabbe disease
CGT and ACD Inhibitors for SRT Treatment of Krabbe Disease
This project tests drugs that block enzymes to lower the toxic lipid psychosine and slow nerve damage in children and adults with Krabbe disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Illinois at Chicago NIH-funded |
| Lab location | 1 site (Chicago, UNITED STATES) |
| Project ID | NIH-11164604 on NIH RePORTER |
What this research studies
If you or your child has Krabbe disease, researchers aim to lower buildup of the toxic lipid psychosine by blocking two enzymes (CGT and acid ceramidase). They will use enzyme-blocking drugs as substrate reduction therapy, often combined with AAV-based gene approaches, and study effects in preclinical models and human-derived tissues. The team will measure survival, motor function, and brain and nerve pathology to see whether lowering psychosine improves disease signs. Results are intended to guide future clinical trials for infant, juvenile, and adult patients.
Who could benefit from this research
Good fit: Ideal candidates would be people with Krabbe disease — including infantile, juvenile, and adult-onset forms — especially those not fully helped by stem cell transplant or who need additional therapy.
Not a fit: Patients with advanced, irreversible brain or nerve damage are less likely to benefit from treatments that lower psychosine.
Why it matters
Potential benefit: If successful, this approach could slow or prevent neurologic decline and provide new treatment options for infant, juvenile, and adult Krabbe patients.
How similar studies have performed: AAV gene therapy in mouse models of Krabbe disease has improved survival and function, but using CGT and acid ceramidase inhibitors together as substrate reduction therapy is largely preclinical and less tested.
Where this research is happening
Chicago, UNITED STATES
- University of Illinois at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Bongarzone, Ernesto Roque — University of Illinois at Chicago
- Study coordinator: Bongarzone, Ernesto Roque
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.