Identifying subgroups in genetic epilepsies and brain disorders
Subgroup delineation in genetic epilepsies and developmental brain disorders
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11058352
This study is looking at how certain genes might affect the symptoms and treatment responses in people with neurodevelopmental disorders and epilepsy, so we can better understand their needs and improve their care.
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-11058352 on ClinicalTrials.gov |
What this research studies
This research investigates the relationship between genetic variants and clinical features in patients with neurodevelopmental disorders and epilepsy. By utilizing a novel approach based on the Human Phenotype Ontology, the study aims to analyze longitudinal data to identify distinct subgroups of patients and their responses to specific treatments. This will help in understanding how different genetic factors influence the progression and treatment outcomes of these conditions. The research focuses on improving the assessment of clinical features to enhance patient care and treatment strategies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with genetic epilepsies or developmental brain disorders, particularly those with known genetic variants.
Not a fit: Patients without a genetic diagnosis or those with non-genetic forms of epilepsy or brain disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more personalized treatment plans for patients with genetic epilepsies and developmental brain disorders.
How similar studies have performed: Previous research has shown promise in using genetic data to inform treatment strategies in similar patient populations, indicating that this approach could yield valuable insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HELBIG, INGO — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: HELBIG, INGO
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.
Conditions: Brain Diseases, Brain Disorders