Gene editing to correct COL4A mutations that cause Gould syndrome
Gene therapy for disorders of the extracellular matrix
Testing gene-editing treatments aimed at fixing COL4A1/COL4A2 mutations to help people with Gould syndrome and related brain small-vessel disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project ID | NIH-10829259 on NIH RePORTER |
What this research studies
This project uses modern gene-editing tools and new viral delivery methods to try to fix the COL4A1 or COL4A2 gene changes that cause Gould syndrome. Researchers will test CRISPR nucleases, base editors, and prime editors delivered by AAV-based vectors in cells taken from people with GS and in mouse models that reproduce patients' brain blood vessel problems. They will measure blood-vessel stability, bleeding risk, and brain blood flow and look for changes linked to stroke and cognitive problems. The work is pre-clinical and is meant to generate the safety and effectiveness data needed before human treatments can be offered.
Who could benefit from this research
Good fit: Ideal candidates are people with genetically confirmed COL4A1 or COL4A2 mutations who can provide consent to donate blood or skin cells and may be interested in future clinical trials.
Not a fit: People whose small vessel disease comes from other causes or who do not have COL4A1/COL4A2 mutations are unlikely to benefit from these COL4A-targeted approaches.
Why it matters
Potential benefit: If successful, correcting the faulty gene could prevent or reduce brain vessel bleeding, small-vessel disease, and related cognitive decline in people with Gould syndrome.
How similar studies have performed: Some gene-editing therapies have shown promise in other single-gene disorders in lab studies and early trials, but applying CRISPR/base/prime editors to COL4A-related brain vessel disease is largely new and pre-clinical.
Where this research is happening
San Francisco, United States
- University of California, San Francisco — San Francisco, United States (Active)
Researchers
- Principal investigator: Gould, Douglas — University of California, San Francisco
- Study coordinator: Gould, Douglas
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.