How the FGFR3 gene controls bone growth
FGFR3 Activities in the Control of Skeletal Growth
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11296918
Researchers are learning how changes in the FGFR3 gene cause achondroplasia and trying gene-based approaches in lab and animal models to find treatments for people with short-limb growth.
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-11296918 on ClinicalTrials.gov |
What this research studies
This project looks at how FGFR3 is switched on and off in the cartilage cells that drive bone growth. Scientists will map the DNA switches (cis-regulatory elements) that control FGFR3 and use CRISPR tools to modify those switches in cells and animal models. They will also test drug-like or genetic approaches that alter pathways around FGFR3 to see if bone growth and skeletal problems improve in preclinical models. Findings could point to safer, more targeted therapies for achondroplasia and inform future human trials.
Who could benefit from this research
Good fit: People with achondroplasia (FGFR3-related short stature) and their families who want new treatment options could be future candidates for related clinical trials.
Not a fit: People without FGFR3-related conditions or those with unrelated causes of short stature are unlikely to benefit directly from this research.
Why it matters
Potential benefit: Could lead to new, more targeted treatments that improve bone growth and reduce complications of achondroplasia.
How similar studies have performed: Drugs that modulate FGFR3 signaling (for example, vosoritide) have shown clinical benefit, but DNA-switch targeting and CRISPR-based approaches are newer and have not been proven in people yet.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LEFEBVRE, VERONIQUE M — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: LEFEBVRE, VERONIQUE M
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.