Gene and cell therapy to correct CLCN7-related osteopetrosis
Genetic editing and cell therapy for correction of CLCN7 mutations in osteopetrosis
This project uses gene editing and patient-derived cell therapy to fix CLCN7 mutations that cause osteopetrosis, aiming to restore the bone-resorbing cells for people with this genetic bone disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11186999 on NIH RePORTER |
What this research studies
This work aims to correct the faulty CLCN7 gene that causes some forms of osteopetrosis by editing a patient's blood- or bone marrow-derived cells that become osteoclasts. Corrected cells would be returned to the patient as an autologous cell therapy intended to restore normal bone resorption and bone marrow function. The team plans to use modern gene-editing tools and safer delivery methods while learning from past gene-transfer efforts that had safety problems. Participants would likely come to Brigham and Women's Hospital for cell collection, processing, and follow-up care.
Who could benefit from this research
Good fit: People with genetically confirmed osteopetrosis caused by CLCN7 mutations who can undergo cell collection and receive autologous cell therapy are the ideal candidates.
Not a fit: Patients whose osteopetrosis is caused by other genes, who cannot undergo cell harvesting or conditioning, or who already have irreversible complications are unlikely to benefit.
Why it matters
Potential benefit: If successful, this approach could restore osteoclast function, reduce fractures and marrow failure, and provide a safer alternative to allogeneic bone marrow transplant.
How similar studies have performed: Earlier retroviral gene therapies caused serious safety problems, lentiviral approaches are currently in clinical trials, and precise gene-editing correction of CLCN7 is a promising but still relatively unproven approach.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Jacome-Galarza, Christian E — Brigham and Women's Hospital
- Study coordinator: Jacome-Galarza, Christian E
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.