New treatment approaches for TBCD-related developmental and epileptic encephalopathy
Uncovering mechanisms and developing novel therapeutic strategies for TBCD-related developmental and epileptic encephalopathy
This project aims to find therapies for people with TBCD-related early-onset developmental and epileptic encephalopathy by studying patient cells, lab-grown mini-brains, and mouse models.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project ID | NIH-11296843 on NIH RePORTER |
What this research studies
Researchers are using blood or skin cells from people with TBCD mutations to make induced pluripotent stem cells and grow cerebral organoids that mirror patients' brain problems. They have also created mouse models carrying different TBCD variants to compare how each change affects brain development and degeneration. The team will study microtubule instability and cell-type specific dysfunction during key developmental windows to understand what causes seizures and neurodegeneration. Based on those findings they plan to test therapeutic strategies, including gene-delivery approaches such as AAV, to stabilize microtubules or restore TBCD function.
Who could benefit from this research
Good fit: People with a confirmed pathogenic or likely pathogenic TBCD gene variant and clinical features of early-onset developmental and epileptic encephalopathy, or their caregivers, who can provide clinical information and donate blood or skin samples are the ideal participants.
Not a fit: People without TBCD mutations or with other causes of epilepsy, and those seeking immediate clinical treatment rather than giving samples for lab research, are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could lead to therapies that reduce seizures, slow or prevent neurodegeneration, and improve development and survival for people with TBCD-related disease.
How similar studies have performed: This is a relatively new and uncommon area of research; while related tubulinopathy approaches have shown promise in preclinical models, targeted therapies for TBCD are largely untested to date.
Where this research is happening
Columbus, United States
- Research Inst Nationwide Children's Hosp — Columbus, United States (Active)
Researchers
- Principal investigator: Bradbury, Allison M — Research Inst Nationwide Children's Hosp
- Study coordinator: Bradbury, Allison 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.