Gene therapies for treating Alpha-1 antitrypsin deficiency
Models and Gene Therapies for AAT Deficiency
This study is looking at new ways to help people with Alpha-1 antitrypsin deficiency by using special gene therapies to fix the problem in their genes, with the hope of improving lung health and preventing serious issues.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project ID | NIH-10914215 on NIH RePORTER |
What this research studies
This research focuses on developing innovative gene therapies for Alpha-1 antitrypsin deficiency (AATD), a genetic condition that can lead to severe lung problems. The team will explore various strategies, including using engineered viruses to deliver healthy copies of the SERPINA1 gene and employing advanced gene editing techniques like CRISPR. By testing these approaches in specially designed animal models, the researchers aim to identify effective treatments that can restore normal levels of the AAT protein in patients. The ultimate goal is to improve lung function and reduce the risk of serious complications associated with AATD.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Alpha-1 antitrypsin deficiency, particularly those with the E342K (PI*Z) mutant allele.
Not a fit: Patients who do not have Alpha-1 antitrypsin deficiency or those with other unrelated genetic conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment option for patients with AAT deficiency, potentially improving their lung health and quality of life.
How similar studies have performed: Previous research using gene therapy and CRISPR techniques for other genetic disorders has shown promising results, indicating potential for success in this area as well.
Where this research is happening
Worcester, United States
- Univ of Massachusetts Med Sch Worcester — Worcester, United States (Active)
Researchers
- Principal investigator: Flotte, Terence R. — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Flotte, Terence R.
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.