Why bony growths (osteochondromas) happen in Hereditary Multiple Exostoses
Pathogenic Mechanisms in Hereditary Multiple Exostoses Syndrome
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11303281
This research looks at how genetic changes in Hereditary Multiple Exostoses cause bony growths in children by studying the signals that control cartilage and bone.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11303281 on ClinicalTrials.gov |
What this research studies
Researchers are studying Hereditary Multiple Exostoses (HME), a genetic condition that causes benign bony outgrowths called osteochondromas, by focusing on the EXT1/EXT2 genes that help make heparan sulfate. Using laboratory models and tissue studies, they examine how loss of these genes changes growth signals such as BMP and hedgehog pathways in the tissue around growth plates. The team measures signaling molecules, looks at changes in the perichondrium, and tests how those changes lead to tumor formation, deformities, and pain. The aim is to discover molecular steps that could be targeted by future treatments to prevent growths or reduce the need for repeated surgeries.
Who could benefit from this research
Good fit: Ideal participants would be people with HME or family members willing to share medical records, tissue samples, or consider future clinical trials related to HME.
Not a fit: People without HME or those with unrelated bone conditions are unlikely to receive direct benefit from this research.
Why it matters
Potential benefit: If successful, this work could identify new targets for drugs that prevent or shrink osteochondromas, reducing pain and the number of surgeries people need.
How similar studies have performed: Previous laboratory studies have shown altered BMP and other signaling in HME models, but translating those findings into effective patient treatments is still largely unproven.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PACIFICI, MAURIZIO — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: PACIFICI, MAURIZIO
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.