Bone fragility in Albers‑Schonberg disease (ADOII)
Mechanisms of bone fragility in Autosomal Dominant Osteopetrosis type II: from human to mouse and back
Researchers are looking at how bone‑breaking and bone‑building cells talk to each other in people with Albers‑Schonberg disease to find ways to prevent fragile bones and fractures.
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-11400414 on NIH RePORTER |
What this research studies
If you have Albers‑Schonberg disease (autosomal dominant osteopetrosis type II), researchers will study your blood cells and sometimes bone biopsy samples to see how osteoclasts (bone‑resorbing cells) and osteoblasts (bone‑forming cells) communicate. They will link those human sample findings with experiments in mice that carry the same CLCN7 gene changes to trace how the ClC‑7 exchanger defect leads to poor bone quality. The team uses genetic testing, cell and tissue analyses, and bone biomechanics to compare human and mouse results. By going back and forth between patient samples and mouse models, they aim to pinpoint mechanisms that could be corrected by future therapies.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with autosomal dominant osteopetrosis type II (Albers‑Schonberg) — especially those with confirmed CLCN7 mutations who are willing to provide blood and/or bone biopsy samples.
Not a fit: People without ADOII (for example typical age‑related osteoporosis or unrelated joint disorders) may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could reveal targets for treatments that strengthen bone or lower fracture risk in people with ADOII and possibly other bone fragility conditions.
How similar studies have performed: Previous work using rare bone diseases to understand normal bone biology has led to new osteoporosis treatments, but applying this combined human‑to‑mouse approach to CLCN7/ADOII is relatively novel and exploratory.
Where this research is happening
Boston, United States
- Brigham and Women's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Charles, Julia F — Brigham and Women's Hospital
- Study coordinator: Charles, Julia F
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.