New mouse models and gene therapy for severe alpha-thalassemia
Official title: Development and validation of novel mouse models and expression vectors for characterizing severe alpha-thalassemia pathophysiology and evaluating gene therapy approaches.
Funded at Children's Hosp of Philadelphia · NIH-11355625 · Data updated 2026-11-12
A patient-focused research opportunity to better understand severe alpha-thalassemia and explore gene-therapy approaches using new mouse models.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $604,255 |
| NIH project number | 5R01DK133475-04 |
| Project ID | NIH-11355625 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with severe alpha-thalassemia or those who lack effective alpha-globin production and may be candidates for future gene-therapy trials.
✕Less likely to help
Patients with alpha-thalassemia who are not eligible for gene therapy or whose disease biology differs from the studied models may not benefit.
What this research studies
This project will create and test mouse models that mimic severe alpha-thalassemia, a condition where the body cannot produce enough alpha-globin. Researchers will develop gene therapy vectors and validate them in these models to see if red blood cell production improves and to understand related effects on iron use and blood clotting. The work aims to reveal how cells handle excess beta-globin and how that influences overall blood health, with a focus on translating findings toward safer, more effective therapies. By studying these models, clinicians may gain new ways to reduce transfusion dependence and long-term complications for adults with this condition.
Why it matters
Potential benefit: If successful, the research could pave the way for gene therapy approaches that lessen or prevent the need for transfusions in severe alpha-thalassemia patients.
How similar studies have gone: Previous work in similar blood disorders has shown that novel mouse models can illuminate disease mechanisms and guide gene-therapy strategies, though this exact approach is ongoing and exploratory.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Rivella, Stefano — Children's Hosp of Philadelphia
- Study coordinator: Rivella, Stefano
Related research
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Creating new mouse models to understand and treat severe alpha-thalassemia.
This study is creating new mouse models to help us learn more about severe alpha-thalassemia, a condition that affects red blood cells, and to explore possible gene therapy treatments that could help people with this disease.
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Clearing excess alpha-globin to help people with beta-thalassemia
This research looks at whether boosting a cell 'self-cleaning' pathway (ULK1-driven autophagy) can remove toxic excess alpha-globin and help people with beta-thalassemia.
-
Effects of iron overload and low oxygen on pregnancy in women with β-thalassemia
This study looks at how too much iron and not enough oxygen during pregnancy can affect the health of women with β-thalassemia and their babies, aiming to find ways to make pregnancy safer for them.
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.