Understanding TBCD gene variations and developing new treatments for related brain disorders
Uncovering mechanisms and developing novel therapeutic strategies for TBCD-related developmental and epileptic encephalopathy
['FUNDING_R01'] · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · NIH-11015788
This study is looking at how changes in the TBCD gene affect children with severe developmental and epileptic encephalopathy, using special cells and mouse models to better understand the disease and find new ways to help those who are affected.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | RESEARCH INST NATIONWIDE CHILDREN'S HOSP (nih funded) |
| Locations | 1 site (COLUMBUS, UNITED STATES) |
| Trial ID | NIH-11015788 on ClinicalTrials.gov |
What this research studies
This research investigates the effects of variations in the TBCD gene, which can lead to severe developmental and epileptic encephalopathy in children. By utilizing induced pluripotent stem cells and cerebral organoids derived from patients, the team aims to uncover the underlying mechanisms of the disease and assess how different genetic variants affect disease progression. The research also includes the development of mouse models to study the impact of TBCD deficiency on neurodevelopment. Through these approaches, the project seeks to identify potential therapeutic strategies to improve outcomes for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with TBCD-related developmental and epileptic encephalopathy.
Not a fit: Patients with other forms of encephalopathy unrelated to TBCD gene variations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the quality of life for patients with TBCD-related encephalopathy.
How similar studies have performed: Previous research has shown promise in using stem cell models to study genetic disorders, indicating that this approach could yield valuable insights.
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.