Understanding Ollier disease and Maffucci syndrome
Delineation of the natural history of Ollier disease and Muffucci syndrome and investigation of their genetic bases
['FUNDING_U01'] · JOHNS HOPKINS UNIVERSITY · NIH-11289471
This project will follow people with Ollier disease or Maffucci syndrome to map their symptoms, find genetic causes, and study how those genetic changes affect tumor growth.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | JOHNS HOPKINS UNIVERSITY (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11289471 on ClinicalTrials.gov |
What this research studies
You would be asked to share medical histories, imaging, and, when possible, tissue or blood samples so doctors can define how symptoms and tumors develop over time. Researchers will run genomic testing on those samples to find genes or variants that cause Ollier disease and Maffucci syndrome. Laboratory experiments will test how identified genetic changes affect the HIF-1 pathway and tumor behavior to better understand disease processes. The team aims to connect patient features with genetic findings to guide future monitoring and treatments.
Who could benefit from this research
Good fit: People diagnosed with Ollier disease or Maffucci syndrome, and in some cases individuals with related cartilage tumors or affected family members, are the ideal candidates.
Not a fit: People without these specific diagnoses or those looking for immediate therapeutic treatment are unlikely to gain direct clinical benefit from participating.
Why it matters
Potential benefit: If successful, this work could identify targets for drugs and lead to better ways to prevent or treat bone deformities and cancers linked to these syndromes.
How similar studies have performed: Previous research has found somatic IDH1/2 mutations in many cases, but comprehensive gene discovery and functional connections to the HIF-1 pathway are still incomplete.
Where this research is happening
BALTIMORE, UNITED STATES
- JOHNS HOPKINS UNIVERSITY — BALTIMORE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SOBREIRA, NARA — JOHNS HOPKINS UNIVERSITY
- Study coordinator: SOBREIRA, NARA
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: Cancer Treatment, Cancers