Investigating heart cells from patients with NOTCH1 mutations in a specific heart condition
Molecular and Functional Evaluation of NOTCH1 Deficient iPSC Derived Cardiomyocytes in Hypoplastic Left Heart Syndrome
['FUNDING_CAREER'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-11080775
This study is looking at how changes in a specific gene can impact heart cells from patients with Hypoplastic Left Heart Syndrome, using special lab-grown cells to better understand heart problems and find new ways to help treat them.
Quick facts
| Phase | ['FUNDING_CAREER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PITTSBURGH AT PITTSBURGH (nih funded) |
| Locations | 1 site (PITTSBURGH, UNITED STATES) |
| Trial ID | NIH-11080775 on ClinicalTrials.gov |
What this research studies
This research focuses on understanding how mutations in the NOTCH1 gene affect heart cells derived from patients with Hypoplastic Left Heart Syndrome. By using induced pluripotent stem cells (iPSCs), the researchers aim to create heart cells that mimic the patients' conditions. The study will explore how these mutations lead to heart issues like arrhythmias and heart failure, with the goal of developing better treatments. Patients' cells will be analyzed to identify potential biomarkers and therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults with Hypoplastic Left Heart Syndrome and known NOTCH1 mutations.
Not a fit: Patients without NOTCH1 mutations or those with other types of congenital heart defects may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments for patients with congenital heart defects, particularly those with NOTCH1 mutations.
How similar studies have performed: Previous research has shown promise in using iPSCs to study heart conditions, indicating that this approach may yield valuable insights.
Where this research is happening
PITTSBURGH, UNITED STATES
- UNIVERSITY OF PITTSBURGH AT PITTSBURGH — PITTSBURGH, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SARAF, ANITA — UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- Study coordinator: SARAF, ANITA
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.