SERPINA1 Gene and Alpha-1 Antitrypsin Deficiency: Clinical Trials
The SERPINA1 gene sits on chromosome 14q32.13, and its full name is serpin family A member 1. Orphanet links SERPINA1 to 3 rare conditions and lists variants in the gene as a cause of 2 of them. Trial Friend's Alpha-1 Antitrypsin Deficiency page lists SERPINA1 among the genes behind the condition. As of September 29, 2026, 2 recruiting or soon-opening trials on ClinicalTrials.gov name SERPINA1 as a gene.
Other symbols for SERPINA1 in gene databases: A1A, A1AT, AAT, PI1, alpha1AT.
What the SERPINA1 gene does
SERPINA1 makes alpha-1 antitrypsin, a protein made in the liver that travels through the blood. It protects the lungs by blocking neutrophil elastase, an enzyme from white blood cells that can damage lung tissue.
Summarized from the SERPINA1 page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
SERPINA1 and Alpha-1 Antitrypsin Deficiency
These condition pages list SERPINA1 among the genes behind the condition, checked against genetics references when each page was written.
Each copy of the gene contributes, so one variant can have an effect and two usually have more.
The ZZ genotype carries the highest risk of lung and liver disease; SZ carries increased lung risk, and MZ a slightly increased risk.
SERPINA1 mutation clinical trials
These recruiting or soon-opening trials mention SERPINA1 as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
2 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to SERPINA1 gene mutations
Orphanet records how each gene relates to each condition. Orphanet links SERPINA1 to 3 rare conditions and lists variants in the gene as a cause of 2 of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
- Modifies it. Variants don't cause the condition on their own but can change how severe it is.
SERPINA1 genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on SERPINA1.
SERPINA1 gene questions
What does the SERPINA1 gene do?
SERPINA1 makes alpha-1 antitrypsin, a protein made in the liver that travels through the blood. It protects the lungs by blocking neutrophil elastase, an enzyme from white blood cells that can damage lung tissue. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with SERPINA1 gene variants?
As of September 29, 2026, 2 recruiting or soon-opening trials on ClinicalTrials.gov name SERPINA1 as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 24 open trials for Alpha-1 Antitrypsin Deficiency, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the SERPINA1 gene?
Orphanet links SERPINA1 to 3 rare conditions and lists variants in the gene as a cause of 2 of them. They include Alpha-1-antitrypsin deficiency, Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation and Cystic fibrosis. Orphanet is the European rare disease database run by INSERM in Paris.
How is Alpha-1 Antitrypsin Deficiency inherited?
The inheritance pattern is autosomal codominant. Each copy of the gene contributes, so one variant can have an effect and two usually have more. The ZZ genotype carries the highest risk of lung and liver disease; SZ carries increased lung risk, and MZ a slightly increased risk.
What does a SERPINA1 variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- SERPINA1 gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.