Understanding the genetic causes of Ollier disease and Maffucci syndrome
Official title: Delineation of the natural history of Ollier disease and Muffucci syndrome and investigation of their genetic bases
Funded at Johns Hopkins University · NIH-11016950 · Data updated 2026-11-12
This study is looking into the genetic causes of Ollier disease and Maffucci syndrome, which can lead to tumors and bone issues, to find new ways to help people with these conditions live healthier lives.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | February 1, 2023 |
| Project end | January 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $545,805 |
| NIH project number | 5U01HD107957-03 |
| Project ID | NIH-11016950 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Ollier disease or Maffucci syndrome, particularly those experiencing related tumor growth or bone deformities.
✕Less likely to help
Patients without a diagnosis of Ollier disease or Maffucci syndrome, or those who do not have related tumor growth, may not benefit from this research.
What this research studies
This research investigates Ollier disease and Maffucci syndrome, which are rare conditions that increase the risk of developing tumors. The study aims to identify the genetic mutations responsible for these syndromes and how they lead to bone deformities and cancer. By analyzing patient data and genetic information, the researchers hope to uncover new treatment options that could improve patient outcomes. The ultimate goal is to develop pharmacological strategies that can prevent or treat the associated tumors in affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve the quality of life and health outcomes for patients with Ollier disease and Maffucci syndrome.
How similar studies have gone: While the specific genetic bases of Ollier disease and Maffucci syndrome are not well-studied, similar research approaches have successfully identified genetic causes in other cancer susceptibility syndromes.
Where this research is happening
-
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.