Autosomal dominant osteopetrosis (ADO2) progression over time
Autosomal Dominant Osteopetrosis: A Natural History Study
Following people with autosomal dominant osteopetrosis (ADO2) over time to track how symptoms, complications, and biological markers change.
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-11314512 on NIH RePORTER |
What this research studies
You would join a group of people with ADO2 who get regular visits, exams, imaging, and lab tests so doctors can record fractures, infections, bone loss, vision problems, and other complications. The study will collect blood or other samples and genetic information to look for biomarkers linked to how the disease progresses. Researchers will use this repeated clinical and laboratory data to map differences in severity and how ADO2 changes with age. The goal is to create a well-characterized patient cohort that can guide future treatment trials and help measure whether new therapies work.
Who could benefit from this research
Good fit: People diagnosed with autosomal dominant osteopetrosis type 2 (ADO2), including those with confirmed CLCN7 mutations or clinical manifestations, who can attend follow-up visits and provide samples are ideal candidates.
Not a fit: People without ADO2, those with unrelated bone disorders, or individuals unwilling or unable to attend regular follow-up visits and testing are unlikely to benefit from participating.
Why it matters
Potential benefit: If successful, the study could help doctors predict which patients are likely to worsen and guide the design of future treatments to prevent fractures and other serious complications.
How similar studies have performed: Animal studies have produced promising data toward possible therapies, but human natural history data are limited and this approach has not yet produced proven treatments.
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.