Understanding a genetic disorder that affects brain development and causes epilepsy
Pathomechanisms of SCN3A-related neurodevelopmental disorder
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-10991691
This study is looking into how changes in a specific gene can cause serious epilepsy and learning challenges in people with SCN3A-related neurodevelopmental disorder, and it hopes to find new ways to help those affected by this condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10991691 on ClinicalTrials.gov |
What this research studies
This research investigates SCN3A-related neurodevelopmental disorder (SCN3A-NDD), which is caused by genetic variants affecting the sodium channel Nav1.3. Patients with this disorder often experience severe epilepsy and intellectual disabilities, along with brain malformations. The study aims to clarify how these genetic changes disrupt brain development and lead to these symptoms, using innovative neuroscience techniques to explore the underlying mechanisms. By understanding these processes, the research seeks to pave the way for new therapies or preventive strategies for this currently untreatable condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with SCN3A-related neurodevelopmental disorder, particularly those experiencing treatment-resistant epilepsy and severe intellectual disabilities.
Not a fit: Patients without SCN3A-related neurodevelopmental disorder or those with different genetic causes of epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to novel treatments or preventive measures for patients with SCN3A-NDD.
How similar studies have performed: While the specific mechanisms of SCN3A-NDD are still being explored, similar research approaches have shown promise in understanding other genetic neurodevelopmental disorders.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GOLDBERG, ETHAN M — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: GOLDBERG, ETHAN 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.