Understanding the natural progression of a rare bone disorder.
Autosomal Dominant Osteopetrosis: A Natural History Study
This study is looking at a rare bone condition called autosomal dominant osteopetrosis type 2 (ADO2) to better understand how it affects people over time, including symptoms like fractures and bone issues, so we can help improve future treatments for those living with it.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project ID | NIH-11091622 on NIH RePORTER |
What this research studies
This research investigates autosomal dominant osteopetrosis type 2 (ADO2), a rare bone disorder caused by genetic mutations that affect bone resorption. The study aims to establish a cohort of patients to track the natural history of the disease, including its symptoms and progression over time. By collecting data on clinical outcomes and potential biological markers, the research seeks to provide insights that could inform future clinical trials and therapies. Patients will be monitored for various manifestations of the disease, such as fractures and bone marrow failure.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with autosomal dominant osteopetrosis type 2, particularly those experiencing significant clinical manifestations.
Not a fit: Patients without a diagnosis of autosomal dominant osteopetrosis type 2 or those with mild symptoms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of ADO2, paving the way for more effective treatments and improved patient outcomes.
How similar studies have performed: While this research focuses on a rare condition, similar studies on other genetic bone disorders have shown promise in understanding disease progression and developing targeted therapies.
Where this research is happening
Indianapolis, United States
- Indiana University Indianapolis — Indianapolis, United States (Active)
Researchers
- Principal investigator: Econs, Michael J — Indiana University Indianapolis
- Study coordinator: Econs, Michael J
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.