Creating a new tool to correct a genetic defect causing alpha-1 antitrypsin deficiency.
Official title: Developing a novel adenine base editor tool for in vivo alpha-1 antitrypsin deficiency gene correction.
Funded at Univ of Massachusetts Med Sch Worcester · NIH-10996880 · Data updated 2026-11-12
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.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | September 1, 2024 |
| Project end | August 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $33,780 |
| NIH project number | 1F30HL176024-01 |
| Project ID | NIH-10996880 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 with the PI*Z allele mutation.
✕Less likely to help
Patients who do not have alpha-1 antitrypsin deficiency or those with other genetic mutations unrelated to the SERPINA1 gene may not benefit from this research.
What this research studies
This research focuses on developing a novel adenine base editor tool to correct the genetic mutations responsible for alpha-1 antitrypsin deficiency (AATD). By utilizing a CRISPR-based approach, the study aims to precisely edit the SERPINA1 gene, which is crucial for producing the alpha-1 antitrypsin protein. The methodology involves using a viral delivery system to introduce the editing tool into the liver, where it can effectively correct the mutation and restore normal protein levels. This innovative technique seeks to overcome limitations of traditional gene editing methods, potentially offering a more efficient and safer treatment option for patients with AATD.
Why it matters
Potential benefit: If successful, this research could provide a groundbreaking treatment for alpha-1 antitrypsin deficiency, potentially reducing the need for lifelong infusions of purified protein.
How similar studies have gone: Other research has shown promising results using CRISPR-based approaches for gene correction, indicating that this method has the potential for success in treating genetic disorders.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Gao, Jenny — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Gao, Jenny
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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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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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.