Managing Alpha-1-Antitrypsin Deficiency through Protein Pathways
Official title: Managing Alpha-1-Antitrypsin Deficiency (AATD) through Proteostasis Signaling Pathways
Funded at Scripps Research Institute, the · NIH-11046628 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Scripps Research Institute, the NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | March 15, 2024 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $785,843 |
| NIH project number | 5R01HL169631-02 |
| Project ID | NIH-11046628 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Alpha-1-Antitrypsin Deficiency, particularly those experiencing symptoms related to lung or liver dysfunction.
✕Less likely to help
Patients who do not have Alpha-1-Antitrypsin Deficiency or related protein folding disorders may not benefit from this research.
What this research studies
This research investigates how to manage Alpha-1-Antitrypsin Deficiency (AATD), a genetic condition that affects protein folding in the liver and can lead to serious lung and liver diseases. The study focuses on understanding how different genetic variants of the AAT protein contribute to disease progression and explores the use of small molecules to enhance the protein folding process. By manipulating specific cellular pathways involved in protein folding, the research aims to develop targeted therapies that could improve patient outcomes. Patients with AATD may benefit from new treatment strategies that address their unique genetic profiles.
Why it matters
Potential benefit: If successful, this research could lead to effective treatments that significantly improve the health and quality of life for patients with Alpha-1-Antitrypsin Deficiency.
How similar studies have gone: Previous research has shown promise in manipulating protein folding pathways for other genetic conditions, suggesting potential for success in this novel approach.
Where this research is happening
-
Scripps Research Institute, the
La Jolla, United States Active
Researchers
- Principal investigator: Balch, William Edward — Scripps Research Institute, the
- Study coordinator: Balch, William Edward
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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Gene therapy approach to treat Alpha-1 Antitrypsin Deficiency
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.
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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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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.