Understanding tongue overgrowth in Beckwith-Wiedemann Syndrome
Official title: Mechanisms of Macroglossia in Beckwith-Wiedemann Syndrome
Funded at Children's Hosp of Philadelphia · NIH-11126123 · Data updated 2026-11-12
This study is looking into why some babies with Beckwith-Wiedemann Syndrome have a larger tongue, which can cause breathing problems, and it hopes to find out how certain genes play a role in this so that better treatment options can be developed.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | May 1, 2025 |
| Project end | January 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $818,112 |
| NIH project number | 1R01DE033646-01A1 |
| Project ID | NIH-11126123 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with Beckwith-Wiedemann Syndrome who exhibit macroglossia.
✕Less likely to help
Patients without Beckwith-Wiedemann Syndrome or those who do not have macroglossia may not benefit from this research.
What this research studies
This research investigates the causes of macroglossia, or severe tongue overgrowth, in infants with Beckwith-Wiedemann Syndrome (BWS). It aims to identify the genetic factors and signaling pathways involved in this condition, which can lead to serious respiratory issues at birth. By analyzing tongue samples from patients with different genetic profiles, the study seeks to understand how variations in specific genes contribute to the severity of macroglossia. The ultimate goal is to improve treatment options beyond the current surgical methods.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of macroglossia in infants with Beckwith-Wiedemann Syndrome, potentially reducing the need for surgery.
How similar studies have gone: While research on macroglossia in BWS is limited, studies on related skeletal muscle diseases have shown promise in understanding genetic influences on muscle growth.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Kalish, Jennifer Melissa — Children's Hosp of Philadelphia
- Study coordinator: Kalish, Jennifer Melissa
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.