How the VPS13D gene affects cell cleanup in movement and nerve disorders
VPS13D, organelle contact, and cellular stress in models of disease
['FUNDING_R01'] · UNIV OF MASSACHUSETTS MED SCH WORCESTER · NIH-11144578
Researchers are looking at how changes in the VPS13D gene affect cell cleanup, inflammation, and nerve cell health in people with age-related movement problems like spastic ataxia and hereditary spastic paraplegia.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF MASSACHUSETTS MED SCH WORCESTER (nih funded) |
| Locations | 1 site (WORCESTER, UNITED STATES) |
| Trial ID | NIH-11144578 on ClinicalTrials.gov |
What this research studies
This work looks at how VPS13D helps different parts of the cell (like mitochondria and the endoplasmic reticulum) talk to each other to clear damaged parts. Researchers will study skin cells taken from patients and a newly made VPS13D knockout mouse to measure mitochondrial clearance, organelle contacts, and signs of cell stress and inflammation. They will compare results across patient-derived cells, mouse tissues, and earlier fly models to find common disease mechanisms. The focus is on linking these cellular changes to progressive movement and nerve problems that develop with age.
Who could benefit from this research
Good fit: Ideal candidates are people with spastic ataxia or hereditary spastic paraplegia linked to VPS13D mutations, or individuals willing to donate skin cells and clinical information for comparison.
Not a fit: People without VPS13D-related disease or with unrelated neurological conditions are unlikely to receive direct benefit from this work.
Why it matters
Potential benefit: If successful, the project could reveal targets to reduce cell stress or improve mitochondrial cleanup, which may guide future treatments for VPS13D-related movement disorders.
How similar studies have performed: Prior studies in fruit flies, patient-derived cells, and a new mouse model have already connected VPS13D to mitochondrial dysfunction and cell stress, though therapeutic approaches remain untested.
Where this research is happening
WORCESTER, UNITED STATES
- UNIV OF MASSACHUSETTS MED SCH WORCESTER — WORCESTER, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BAEHRECKE, ERIC H — UNIV OF MASSACHUSETTS MED SCH WORCESTER
- Study coordinator: BAEHRECKE, ERIC H
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.