Understanding how a genetic mutation causes nerve degeneration in children with CMT4B3.
Official title: Mechanisms of Neurodegeneration in CMT4B3: a Complex Pediatric Neurodevelopmental Disorder
Funded at University of Miami School of Medicine · NIH-10907516 · Data updated 2026-11-12
This study is looking at a rare genetic condition called Charcot-Marie-Tooth Disease type 4B3, which affects how nerves work in kids, to understand how a specific gene change causes problems in nerve cells, with the hope of finding better treatments to help these children.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $53,974 |
| NIH project number | 5F30HD113231-02 |
| Project ID | NIH-10907516 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old diagnosed with Charcot-Marie-Tooth Disease type 4B3.
✕Less likely to help
Patients with other forms of Charcot-Marie-Tooth Disease or those over the age of 11 may not benefit from this specific research.
What this research studies
This research investigates Charcot-Marie-Tooth Disease type 4B3 (CMT4B3), a rare genetic disorder that affects nerve function in children. The study focuses on the role of a specific gene mutation in disrupting cellular processes that are crucial for maintaining healthy nerve cells. By using advanced cell models derived from patient stem cells, researchers aim to uncover the biochemical mechanisms that lead to nerve degeneration and developmental challenges in affected children. The findings could provide insights into potential therapeutic strategies to improve outcomes for these patients.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that help preserve nerve function and improve developmental outcomes for children with CMT4B3.
How similar studies have gone: While research on CMT4B3 is limited, similar studies on other forms of Charcot-Marie-Tooth Disease have shown promise in understanding the underlying mechanisms of nerve degeneration.
Where this research is happening
-
University of Miami School of Medicine
Coral Gables, United States Active
Researchers
- Principal investigator: Jacobs, Elizabeth Haley — University of Miami School of Medicine
- Study coordinator: Jacobs, Elizabeth Haley
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.