GLA Gene and Fabry Disease: Mutations and Clinical Trials
The GLA gene sits on chromosome Xq22.1, and its full name is galactosidase alpha. Orphanet links GLA to 1 rare condition, Fabry disease, and lists variants in the gene as its cause. Trial Friend's Fabry Disease page lists GLA among the genes behind the condition. As of September 29, 2026, 3 recruiting or soon-opening trials on ClinicalTrials.gov name GLA as a gene.
Other symbols for GLA in gene databases: GALA.
What the GLA gene does
GLA makes the enzyme alpha-galactosidase A, which works inside lysosomes, the cell's recycling centers. It breaks down globotriaosylceramide, a molecule made of three sugars attached to a fat.
Summarized from the GLA page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
GLA and Fabry Disease
These condition pages list GLA among the genes behind the condition, checked against genetics references when each page was written.
The gene is on the X chromosome, so the pattern differs between males and females.
Heterozygous females are often symptomatic, so GLA sequencing rather than enzyme assay alone is needed to diagnose women.
GLA mutation clinical trials
These recruiting or soon-opening trials mention GLA 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.
3 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to GLA gene mutations
Orphanet records how each gene relates to each condition. Orphanet links GLA to 1 rare condition, Fabry disease, and lists variants in the gene as its cause.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
GLA 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 GLA.
GLA gene questions
What does the GLA gene do?
GLA makes the enzyme alpha-galactosidase A, which works inside lysosomes, the cell's recycling centers. It breaks down globotriaosylceramide, a molecule made of three sugars attached to a fat. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with GLA gene variants?
As of September 29, 2026, 3 recruiting or soon-opening trials on ClinicalTrials.gov name GLA as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 44 open trials for Fabry Disease, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the GLA gene?
Orphanet links GLA to 1 rare condition, Fabry disease, and lists variants in the gene as its cause. Orphanet is the European rare disease database run by INSERM in Paris.
How is Fabry Disease inherited?
The inheritance pattern is X-linked. The gene is on the X chromosome, so the pattern differs between males and females. Heterozygous females are often symptomatic, so GLA sequencing rather than enzyme assay alone is needed to diagnose women.
What does a GLA 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.
- GLA 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.