Managing Alpha-1-Antitrypsin Deficiency through Protein Pathways
Managing Alpha-1-Antitrypsin Deficiency (AATD) through Proteostasis Signaling Pathways
['FUNDING_R01'] · SCRIPPS RESEARCH INSTITUTE, THE · NIH-11046628
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | SCRIPPS RESEARCH INSTITUTE, THE (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11046628 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Alpha-1-Antitrypsin Deficiency, particularly those experiencing symptoms related to lung or liver dysfunction.
Not a fit: Patients who do not have Alpha-1-Antitrypsin Deficiency or related protein folding disorders may not benefit from this research.
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 performed: 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
LA JOLLA, UNITED STATES
- SCRIPPS RESEARCH INSTITUTE, THE — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BALCH, WILLIAM EDWARD — SCRIPPS RESEARCH INSTITUTE, THE
- Study coordinator: BALCH, WILLIAM EDWARD
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.