Gene therapy approach to treat Alpha-1 Antitrypsin Deficiency
Official title: Gene Therapy for Alpha 1-Antitrypsin Deficiency
Funded at Weill Medical Coll of Cornell Univ · NIH-11370353 · Data updated 2026-11-12
A gene therapy approach is being developed to treat Alpha-1 Antitrypsin deficiency, a lung disease, with the aim of providing a lasting source of the protective AAT protein.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | May 15, 2024 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $2,451,275 |
| NIH project number | 5R33HL169190-03 |
| Project ID | NIH-11370353 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with confirmed AAT deficiency (SERPINA1 mutation, e.g., Z allele) who have or are at risk for early-onset emphysema and are eligible for gene-therapy trials.
✕Less likely to help
Patients without AAT deficiency or without progression of lung disease may not directly benefit from this gene therapy approach.
What this research studies
This project aims to translate a gene therapy strategy for Alpha-1 Antitrypsin deficiency from the lab toward human use. It focuses on delivering a corrective gene via an AAV-based vector to restore AAT production and balance in the lungs, reducing damage from neutrophil enzymes. The work will involve preclinical assessment and planning for human studies, with an emphasis on overcoming challenges such as protein oxidation and delivery efficiency. If successful, this approach could lessen or replace current weekly plasma-derived AAT infusions and protect lung tissue over time. The team is based at Weill Medical College of Cornell University and led by Dr. Ronald G. Crystal.
Why it matters
Potential benefit: If successful, patients with AAT deficiency could experience slower lung decline and reduced need for daily or weekly plasma-derived therapies.
How similar studies have gone: Previous work shows promise in gene therapies for liver-produced proteins, but translating to human AAT deficiency is still early and this project seeks to advance toward human testing.
Where this research is happening
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Weill Medical Coll of Cornell Univ
New York, United States Active
Researchers
- Principal investigator: Crystal, Ronald G — Weill Medical Coll of Cornell Univ
- Study coordinator: Crystal, Ronald G
Related research
Other NIH-funded projects on the same topics.
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Understanding why AAT deficiency harms the liver and how to fix it
A career development program will explore how a genetic liver disease (AAT deficiency) damages liver cells and test ideas that could lead to new treatments for people with ZZ mutations.
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Treating alpha-1 antitrypsin deficiency by targeting cellular protein-folding pathways
This project uses small molecules to fix how cells fold alpha-1 antitrypsin so people with different genetic forms of alpha-1 antitrypsin deficiency may keep healthier livers and lungs.
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Managing Alpha-1-Antitrypsin Deficiency through Protein Pathways
This study is looking at how to better treat Alpha-1-Antitrypsin Deficiency (AATD) by understanding how different gene variations affect the disease and testing new ways to help the body make the AAT protein work better, which could lead to improved treatments for patients like you.
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Creating a new tool to correct a genetic defect causing alpha-1 antitrypsin deficiency.
This study is testing a new way to fix the genetic problem that causes alpha-1 antitrypsin deficiency by using a special tool to edit the gene in your liver, which could lead to better and safer treatments for people with this condition.
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Prediction score for death or lung transplant in emphysema caused by alpha-1 antitrypsin deficiency
This study tests a new prediction tool to identify people with emphysema due to alpha-1-antitrypsin deficiency who are at high risk of death or needing a lung transplant.
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Two weekly doses of Alpha1-Proteinase Inhibitor by injection compared with standard IV dose in alpha-1 antitrypsin deficiency
A 'how it works' test to see if two weekly subcutaneous doses are as safe and help the body process the medicine as well as the standard IV dose for adults with AAT deficiency.
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.