Raising PC1 protein to slow autosomal dominant polycystic kidney disease
In vivo investigation of PKD1 upstream open reading frames as a therapeutic target in autosomal dominant polycystic kidney disease
Researchers are trying to raise the PKD1/PC1 protein level to slow cyst growth in people with autosomal dominant polycystic kidney disease, especially those with certain genetic changes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11234313 on NIH RePORTER |
What this research studies
From my perspective as a patient, the team plans to increase the amount of the PC1 protein by targeting regulatory parts of the PKD1 gene called upstream open reading frames (uORFs). They will use lab models, including mice and cultured cells, and genetic or antisense approaches to boost PC1 production. The researchers will track kidney and liver cyst growth and related measures of organ function to see if more PC1 prevents or reduces cysts. They will focus on genetic situations common in ADPKD patients, such as non-truncating PKD1 mutations or defects that reduce PC1 maturation.
Who could benefit from this research
Good fit: Adults with autosomal dominant polycystic kidney disease—particularly those with non-truncating PKD1 mutations or genetic changes that impair PC1 maturation—would be the most relevant candidates.
Not a fit: People without ADPKD or those whose PKD1 mutations completely eliminate the protein (truncating mutations) are less likely to benefit from this approach.
Why it matters
Potential benefit: If successful, this approach could increase functional PC1 protein and slow cyst growth, lowering the risk of kidney failure and severe abdominal pain.
How similar studies have performed: Related preclinical work, such as blocking microRNA-17, has helped PKD1 missense mouse models, so this builds on promising animal data while using a novel regulatory target.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Besse, Whitney Elise — Yale University
- Study coordinator: Besse, Whitney Elise
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.