Study of the Week: Noninvasive Biomarker Discovered for Moyamoya Disease

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest or importance and go more in-depth. In this story we will talk about the details of the study and explain why it’s important, who will be impacted, and more.

If you read our short form research stories and find yourself wanting to learn more, you’ve come to the right place.


This week’s study is…

Non-invasive urinary biomarkers in moyamoya disease

We previously published about this research in a story titled “New Moyamoya Biomarker Test Developed” which can be found here. The study was originally published in the journal Frontiers in Neurology. You can view the full study here.

What Happened?

Moyamoya disease is a rare condition affecting certain blood vessels. It can generally be treated effectively using surgical revascularization. However, it can be challenging to diagnose or determine whether the disease is progressing. The timing of treatment is critical to prevent serious symptoms such as stroke from occurring. These concerns are especially true for children. Moyamoya disease is implicated in around six percent of pediatric strokes. 

Children are not always capable of handling the imaging tests used on adults and may not be able to explain their symptoms clearly. Other concerns include a lack of methods for predicting outcomes and tailoring treatment to each patient’s individual case. The researchers set out with the goal of finding a new, noninvasive biomarker that could help provide doctors with vital information about a patient’s condition.

A total of 32 moyamoya disease patients 18 years or under were involved, as well as a control group of 14 volunteers. Samples of cerebrospinal fluid and urine were collected from each participant. An analysis of the urine samples revealed differences between the patients and the control group; patients had elevated levels of certain angiogenic proteins, including MMP-2, MMP-9, MMP-9/NGAL, and VEGF. The scientists found the MMP-2 was the most useful, with an overall accuracy rating of 91 percent, 100 percent specificity, and 88 percent sensitivity. 

These biomarker levels also changed following treatment and the changes corresponded with revascularization as identified on radiographic imaging. The researchers succeeded in identifying noninvasive biomarkers that indicated the presence of moyamoya disease and could be traced from the central nervous system to urine. They could be exceptionally useful for diagnosis and in monitoring patients after treatment.

About Moyamoya Disease

Moyamoya disease is a rare and unusual illness which is characterized by the constriction of certain brain arteries, which ultimately restricts blood flow. Blood clots can also appear with the illness. The name of this disease is the result of the smoke-like appearance of collateral blood vessels on an x-ray that appear in an attempt to compensate for the blockage. Moyamoya means “puff of smoke” in Japanese. These collateral vessels are vulnerable to bleeding and clotting. The disease is caused by genetic mutations, with about ten percent of cases running in families. It affects women more frequently than men. Symptoms include stroke, transient ischemic attacks, headaches, convulsions, and paralysis or numbness in the extremities. Some patients do not have them. Surgical intervention is necessary to restore healthy blood flow. Blood thinners may also be useful. To learn more about moyamoya disease, click here.

Why Does it Matter?

The discovery of a new, noninvasive biomarker for this rare disease is a first-of-its-kind discovery that has the potential to improve outcomes. Doctors will now be able to diagnose patients earlier, before the most severe symptoms, such as debilitating strokes, begin to appear. In addition, this suite of biomarkers gives doctors a new method for monitoring a patient’s disease state. These biomarkers, with further study, could also play a role in giving doctors an idea of how a patient will respond to surgical intervention, the most common method used to treat moyamoya.

Urinary biomarkers have been used effectively in a large number of diseases to help monitor a patient’s condition. The non-invasive nature of these biomarkers also means that their use is of little burden to the patient, which is especially relevant in moyamoya disease and other illnesses in which a significant number of patients are children. In moyamoya, they will be a significant advancement, as current methods involve costly radiographic studies (like MRI) alongside less precise clinical examinations. In children, these methods can often require anesthesia and/or sedation. 

Urinary biomarkers are also useful because they avoid the risks and challenges of collecting biomarkers from other sources such as blood or spinal fluid. The collection of CNS from patients also helped to further validate the profile of biomarkers found in the urine samples. The scientists predict that these biomarkers would be elevated prior to treatment and would go down in the weeks or months following treatment. They could also be used to screen children that would be at elevated risk of the disease, such as those with sickle cell disease, Down syndrome, or a family history.

Ultimately these biomarkers give physicians many new potential capabilities in the treatment of moyamoya disease.

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