How loss of the GALC enzyme causes Krabbe disease
Selective galactosylceramidase ablation to study the pathogenesis of Krabbe leukodystrophy
['FUNDING_R01'] · STATE UNIVERSITY OF NEW YORK AT BUFFALO · NIH-11257681
This project looks at how missing GALC enzyme in certain brain cells leads to Krabbe disease, with the goal of finding clues that could help babies and young children with the condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | STATE UNIVERSITY OF NEW YORK AT BUFFALO (nih funded) |
| Locations | 1 site (AMHERST, UNITED STATES) |
| Trial ID | NIH-11257681 on ClinicalTrials.gov |
What this research studies
From a patient or caregiver view, researchers use new mouse models that remove the GALC enzyme in specific brain cell types to see which cells drive damage. They found that when GALC is lost in oligodendrocytes (the cells that make myelin), those cells die by a process called ferroptosis and inflammatory signals like the LCN2 protein rise. The team combines cell-type targeting and molecular sequencing methods to map the chain of events that cause demyelination and neurodegeneration. The ultimate aim is to find points in that chain that could become treatment targets to protect the brain.
Who could benefit from this research
Good fit: Families of infants or young children diagnosed with infantile-onset Krabbe disease, and caregivers looking for future clinical options, are the people most relevant to this research.
Not a fit: People with unrelated neurological conditions or those with late-onset adult forms of leukodystrophy may not directly benefit from the findings in the short term.
Why it matters
Potential benefit: If successful, this work could reveal new targets and strategies to prevent or reduce brain damage in infants and children with Krabbe disease.
How similar studies have performed: Hematopoietic stem cell transplant can partly slow early Krabbe disease, but the focus on cell-type specific GALC loss, ferroptosis, and LCN2 is a relatively new and untested approach in this disorder.
Where this research is happening
AMHERST, UNITED STATES
- STATE UNIVERSITY OF NEW YORK AT BUFFALO — AMHERST, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SHIN, DAESUNG — STATE UNIVERSITY OF NEW YORK AT BUFFALO
- Study coordinator: SHIN, DAESUNG
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.