Gene Treatments for Alpha-1 Antitrypsin Deficiency
Models and Gene Therapies for AAT Deficiency
['FUNDING_P01'] · UNIV OF MASSACHUSETTS MED SCH WORCESTER · NIH-11146461
This project aims to create new gene treatments for people living with Alpha-1 antitrypsin deficiency, a genetic condition that can harm the lungs.
Quick facts
| Phase | ['FUNDING_P01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF MASSACHUSETTS MED SCH WORCESTER (nih funded) |
| Locations | 1 site (WORCESTER, UNITED STATES) |
| Trial ID | NIH-11146461 on ClinicalTrials.gov |
What this research studies
Our goal is to develop gene therapies that can correct the genetic cause of Alpha-1 antitrypsin deficiency (AATD). We are exploring several ways to deliver healthy genes into the body, primarily using special viruses called AAV vectors, which have shown promise in treating other genetic conditions. We are also working with advanced gene editing tools like CRISPR to directly fix the faulty gene. Additionally, we are searching for new and improved AAV vectors from natural sources that could be even more effective and safer for patients.
Who could benefit from this research
Good fit: This foundational research is for future patients with Alpha-1 antitrypsin deficiency caused by mutations in the SERPINA1 gene, particularly the E342K (PI*Z) allele.
Not a fit: Patients without Alpha-1 antitrypsin deficiency or those with different underlying conditions would not directly benefit from this specific gene therapy approach.
Why it matters
Potential benefit: If successful, this work could lead to a one-time gene therapy that corrects the underlying cause of Alpha-1 antitrypsin deficiency, potentially preventing or slowing lung damage.
How similar studies have performed: Recombinant adeno-associated virus (rAAV)-based vectors have been successfully used in gene therapies for other genetic diseases, showing promise for this approach.
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.