DMD Gene and Duchenne Muscular Dystrophy: Clinical Trials
The DMD gene sits on chromosome Xp21.2-p21.1, and its full name is dystrophin. Orphanet links DMD to 5 rare conditions and lists variants in the gene as a cause of all of them. Trial Friend's Duchenne Muscular Dystrophy and Becker Muscular Dystrophy pages list DMD among the genes behind each condition. As of September 29, 2026, 11 recruiting or soon-opening trials on ClinicalTrials.gov name DMD as a gene.
Other symbols for DMD in gene databases: BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269.
What the DMD gene does
DMD, the largest known human gene, makes dystrophin. In skeletal and heart muscle, dystrophin anchors the inside of each muscle cell to the material around it and protects muscle fibers from damage as they contract and relax.
Summarized from the DMD page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
Conditions linked to DMD on Trial Friend
These condition pages list DMD among the genes behind the condition, checked against genetics references when each page was written.
The gene is on the X chromosome. It mostly affects males, who have one X. Females with one variant are usually carriers, though some have symptoms.
Duchenne and Becker are the same gene; variants that abolish dystrophin cause Duchenne, those leaving partial function cause Becker.
The gene is on the X chromosome. It mostly affects males, who have one X. Females with one variant are usually carriers, though some have symptoms.
Becker results from DMD variants that leave partially functional dystrophin (usually in-frame deletions); Duchenne from variants that abolish it. Female carriers can have cardiomyopathy.
DMD mutation clinical trials
These recruiting or soon-opening trials mention DMD 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.
11 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to DMD gene mutations
Orphanet records how each gene relates to each condition. Orphanet links DMD to 5 rare conditions and lists variants in the gene as a cause of all of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
DMD 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 DMD.
DMD gene questions
What does the DMD gene do?
DMD, the largest known human gene, makes dystrophin. In skeletal and heart muscle, dystrophin anchors the inside of each muscle cell to the material around it and protects muscle fibers from damage as they contract and relax. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with DMD gene variants?
As of September 29, 2026, 11 recruiting or soon-opening trials on ClinicalTrials.gov name DMD as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 81 open trials for Duchenne Muscular Dystrophy and 81 for Becker Muscular Dystrophy, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the DMD gene?
Orphanet links DMD to 5 rare conditions and lists variants in the gene as a cause of all of them. They include Becker muscular dystrophy, Duchenne muscular dystrophy, Familial isolated dilated cardiomyopathy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers and X-linked non-syndromic intellectual disability. Orphanet is the European rare disease database run by INSERM in Paris.
How is Duchenne Muscular Dystrophy inherited?
The inheritance pattern is X-linked recessive. The gene is on the X chromosome. It mostly affects males, who have one X. Females with one variant are usually carriers, though some have symptoms. Duchenne and Becker are the same gene; variants that abolish dystrophin cause Duchenne, those leaving partial function cause Becker.
How is Becker Muscular Dystrophy inherited?
The inheritance pattern is X-linked recessive. The gene is on the X chromosome. It mostly affects males, who have one X. Females with one variant are usually carriers, though some have symptoms. Becker results from DMD variants that leave partially functional dystrophin (usually in-frame deletions); Duchenne from variants that abolish it. Female carriers can have cardiomyopathy.
What does a DMD 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.
- DMD 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.