Understanding aortic root aneurysms in Loeys-Dietz syndrome using patient cells
Defining mechanisms of aortic root aneurysm in Loeys-Dietz syndrome using patients’ induced pluripotent stem cells and genome editing
['FUNDING_R01'] · UNIVERSITY OF MICHIGAN AT ANN ARBOR · NIH-10829911
This study is looking at how certain gene changes in people with Loeys-Dietz syndrome can lead to aortic root aneurysms, and it hopes to find new ways to treat these conditions by using your cells to help understand the problem better.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MICHIGAN AT ANN ARBOR (nih funded) |
| Locations | 1 site (ANN ARBOR, UNITED STATES) |
| Trial ID | NIH-10829911 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic mechanisms behind aortic root aneurysms in patients with Loeys-Dietz syndrome by utilizing their induced pluripotent stem cells. The team will analyze how specific gene mutations affect the development of these aneurysms, focusing on the TGF-β pathway. By employing genome editing techniques, they aim to uncover potential therapeutic targets that could lead to improved treatments for thoracic aortic aneurysms. Patients may have the opportunity to contribute their cells to this important research.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Loeys-Dietz syndrome, particularly those with mutations in the TGFBR1 or SMAD3 genes.
Not a fit: Patients without Loeys-Dietz syndrome or those not exhibiting aortic root aneurysms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that prevent or reverse aortic root aneurysms in affected patients.
How similar studies have performed: Previous research has shown promise in understanding genetic mutations related to cardiovascular conditions, suggesting potential for success in this novel approach.
Where this research is happening
ANN ARBOR, UNITED STATES
- UNIVERSITY OF MICHIGAN AT ANN ARBOR — ANN ARBOR, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YANG, BO — UNIVERSITY OF MICHIGAN AT ANN ARBOR
- Study coordinator: YANG, BO
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.