How RHOBTB2 gene changes cause severe early-onset epilepsy and developmental disability
Investigating the role of RHOBTB2 in DEE to develop novel therapies
['FUNDING_R21'] · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · NIH-11293460
This project looks at how changes in the RHOBTB2 gene cause severe early-onset epilepsy and developmental problems in children using human cell models to point toward new treatments.
Quick facts
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ST. JUDE CHILDREN'S RESEARCH HOSPITAL (nih funded) |
| Locations | 1 site (MEMPHIS, UNITED STATES) |
| Trial ID | NIH-11293460 on ClinicalTrials.gov |
What this research studies
From a patient's perspective, this project uses human cell models to study RHOBTB2 gene variants found in people with developmental and epileptic encephalopathy (RHOBTB2-DEE). Researchers will compare normal and mutant RHOBTB2 proteins to see if the mutant proteins are more stable or interfere with the healthy protein. They will examine the molecular and cellular effects of the most common disease-causing variants to understand how brain cells are disrupted. The work aims to identify mechanisms that could be targeted by future therapies.
Who could benefit from this research
Good fit: Ideal candidates for any sample donation or future trials would be children or families with a confirmed pathogenic RHOBTB2 variant and a diagnosis of RHOBTB2-related developmental and epileptic encephalopathy.
Not a fit: Patients whose epilepsy is caused by other genes, non-genetic causes, or who do not carry RHOBTB2 variants are unlikely to benefit directly from this project's findings.
Why it matters
Potential benefit: If successful, the work could reveal molecular targets for therapies that reduce seizures and improve development in children with RHOBTB2-DEE.
How similar studies have performed: This approach is largely novel for RHOBTB2, although similar gene-focused lab studies have helped lead to treatments for other genetic developmental and epileptic encephalopathies.
Where this research is happening
MEMPHIS, UNITED STATES
- ST. JUDE CHILDREN'S RESEARCH HOSPITAL — MEMPHIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MEFFORD, HEATHER C. — ST. JUDE CHILDREN'S RESEARCH HOSPITAL
- Study coordinator: MEFFORD, HEATHER C.
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.