Why bones are fragile in Albers‑Schonberg disease
Mechanisms of bone fragility in Autosomal Dominant Osteopetrosis type II: from human to mouse and back
['FUNDING_R01'] · BRIGHAM AND WOMEN'S HOSPITAL · NIH-11123089
Researchers are using blood and bone samples from people with Albers‑Schonberg disease and matching mouse models to learn why their bones are fragile and point to better treatments.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BRIGHAM AND WOMEN'S HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11123089 on ClinicalTrials.gov |
What this research studies
This project uses blood and bone samples from people with Albers‑Schonberg disease and lab mice carrying the same genetic change to trace how bone‑eating cells (osteoclasts) and bone‑building cells (osteoblasts) communicate. Researchers will examine the effects of CLCN7 mutations on osteoclast function using biopsies, blood monocytes, and molecular analyses. Findings in human samples will be tested in mouse models to see whether the same communication problems occur and which signals are disrupted. The combined human and mouse data will be used to suggest biological targets that could be developed into therapies to strengthen fragile bones.
Who could benefit from this research
Good fit: Ideal participants are people diagnosed with Albers‑Schonberg disease (autosomal dominant osteopetrosis type II), especially those with a known CLCN7 mutation who can provide blood or bone biopsy samples.
Not a fit: People without Albers‑Schonberg disease, those with unrelated bone conditions, or anyone unwilling or unable to provide samples or attend clinic visits are unlikely to benefit directly from participation.
Why it matters
Potential benefit: If successful, this work could reveal targets for treatments that strengthen bone and reduce fractures in Albers‑Schonberg disease and possibly in common osteoporosis.
How similar studies have performed: Using rare bone diseases to reveal basic bone biology has led to treatments for osteoporosis before, so the approach is promising though the specific CLCN7 coupling mechanism is still novel.
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.
Conditions: Albers-Schoenberg Disease, Albers-Schonberg disease, Bone Diseases