Improving Gene Replacement for Alpha-1 Antitrypsin Deficiency
Optimized Gene Replacement for AAT deficiency and Modeling of Clinical Outcomes in small and large animal models
['FUNDING_P01'] · UNIV OF MASSACHUSETTS MED SCH WORCESTER · NIH-11146479
This research is working to create better gene therapy to help people 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-11146479 on ClinicalTrials.gov |
What this research studies
Alpha-1 antitrypsin deficiency (AATD) is a genetic condition where the body doesn't make enough of a protective protein, leading to lung damage and emphysema. Current treatments involve regular infusions, but it's unclear if these truly improve lung function. Our team is developing new gene replacement methods to restore the missing protein, using advanced techniques like rAAV gene therapy and CRISPR technology. We are testing these optimized approaches in animal models to understand how they might work in people.
Who could benefit from this research
Good fit: This research is relevant for patients diagnosed with Alpha-1 antitrypsin deficiency, particularly those with the common E242K (PI*Z) mutation.
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 gene replacement approach could offer a more effective and lasting way to protect the lungs of patients with Alpha-1 antitrypsin deficiency.
How similar studies have performed: Previous gene therapy efforts by this lab have shown sustained protein levels in patients, though not yet reaching target levels, indicating a foundation for this optimized 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.