Understanding how TBCK deficiency leads to neurodegeneration in children
Official title: Administrative Supplement for Unraveling the Mechanisms of Neurodegeneration in TBCK Encephaloneuronopathy
Funded at Children's Hosp of Philadelphia · NIH-10987882 · Data updated 2026-11-12
This study is looking into how a lack of the TBCK protein affects brain cells in children with TBCK syndrome, hoping to find ways to help improve their condition by understanding how their cells clear out damaged parts.
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) | $107,662 |
| NIH project number | 3R01NS132795-02S1 |
| Project ID | NIH-10987882 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with TBCK syndrome or those showing symptoms of neurodegeneration.
✕Less likely to help
Patients with neurodegenerative disorders unrelated to TBCK syndrome may not benefit from this research.
What this research studies
This research investigates the mechanisms behind neurodegeneration associated with TBCK syndrome, a rare pediatric neurodevelopmental disorder. It focuses on how the deficiency of the TBCK protein affects lysosomal function in neurons, which is crucial for clearing damaged proteins and organelles. The study will utilize patient-derived fibroblasts and induced neurons to explore the relationship between TBCK deficiency and lysosomal dysfunction, aiming to uncover potential therapeutic targets. By examining the motility and maturation of lysosomes, the research seeks to provide insights into the underlying causes of neurodegeneration in affected children.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve the health and quality of life for children with TBCK syndrome.
How similar studies have gone: Previous research has shown promising results in understanding lysosomal dysfunction in neurodegenerative diseases, suggesting that this approach could yield valuable insights.
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
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.