Mucopolysaccharidosis Type VI (MPS VI) Clinical Trials

Mucopolysaccharidosis Type VI is caused by mutations in the ARSB gene, resulting in deficiency of the enzyme arylsulfatase B (also called N-acetylgalactosamine-4-sulfatase). This enzyme is needed to break down dermatan sulfate and chondroitin 4-sulfate, glycosaminoglycans found throughout connective tissues. Without it, these substrates accumulate in lysosomes, progressively damaging bones, joints, heart valves, corneas, and other organs.

The most common symptoms of Mucopolysaccharidosis Type VI include Short stature and progressive growth failure, Joint stiffness and contractures limiting mobility, Coarse facial features that become more prominent with age, Corneal clouding and progressive vision loss, Heart valve abnormalities including stenosis and regurgitation, among others. Approximately 1 in 250,000 to 1 in 600,000 live births worldwide; fewer than 1,100 people in the United States. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Mucopolysaccharidosis Type VI from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Research in MPS VI focuses on improving outcomes beyond what current enzyme replacement therapy with Naglazyme can achieve. Gene therapy approaches aim to provide continuous enzyme production rather than weekly infusions, potentially reaching tissues that ERT cannot easily access like bone and cartilage.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Mucopolysaccharidosis Type VI. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Mucopolysaccharidosis Type VI is caused by variants in the ARSB gene.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. Approximately 1 in 250,000 to 1 in 600,000 live births worldwide; fewer than 1,100 people in the United States. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Mucopolysaccharidosis Type VI looks at the ARSB gene.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Mucopolysaccharidosis Type VI clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Mucopolysaccharidosis Type VI clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.