Understanding how a genetic mutation causes nerve cell death in children
Official title: Unraveling the Mechanisms of Neurodegeneration in TBCK Encephaloneuronopathy
Funded at Children's Hosp of Philadelphia · NIH-10930862 · Data updated 2026-11-12
This study is looking into how a change in the TBCK gene affects brain cells in children with TBCK encephalopathy, a rare condition, to help find new ways to treat them.
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 | September 18, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $649,248 |
| NIH project number | 5R01NS132795-02 |
| Project ID | NIH-10930862 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with TBCK encephalopathy or other related neurodegenerative disorders.
✕Less likely to help
Patients with neurodegenerative disorders not related to genetic mutations affecting TBCK may not benefit from this research.
What this research studies
This research investigates the mechanisms behind neurodegeneration in children with TBCK encephalopathy, a rare genetic disorder. The study focuses on understanding how a mutation in the TBCK gene leads to mitochondrial dysfunction and cell death in neurons. Researchers will analyze patient-derived cells to explore the role of TBCK in RNA transport and protein synthesis, particularly in the context of nerve cells. By uncovering these mechanisms, the research aims to provide insights that could lead to potential treatments for affected children.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating neurodegenerative disorders in children.
How similar studies have gone: While research on neurodegeneration has shown promise, this specific investigation into TBCK encephalopathy is relatively novel and untested.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Ortiz-Gonzalez, Xilma R — Children's Hosp of Philadelphia
- Study coordinator: Ortiz-Gonzalez, Xilma R
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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.