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NIH Is Recruiting for Study That Gets “to the Heart” of Being a Carrier of CGD

June 22, 2018

John I. Gallin, MD Chief Scientific Officer, Clinical Center Associate Director for Clinical Research National Institutes of Health


Most mothers in the Chronic Granulomatous Disease (CGD) community are aware of the health implications of being an X-linked carrier of CGD. Now for the good news: there may be some protection against atherosclerosis, a serious disease that causes plaque to build up inside arteries, which can lead to heart attack and stroke.

If you’re a carrier or have always wondered if you are, the National Institutes of Health (NIH) is running a study that will enable you to learn more about your current health condition, to understand what it means to be a carrier of CGD, and to help the NIH advance its research into atherosclerosis.

This study is based on findings in “Assessment of Atherosclerosis in Chronic Granulomatous Disease,” published in Circulation 130: 2031-2039, 2014. This study evaluated atherosclerosis in individuals with CGD and showed that compared with people with normal immune systems, as people with CGD get older they are protected from carotid artery thickening, a marker of atherosclerosis.

These data led one of the researchers of the study, Dr. John Gallin, NIH Associate Director for Clinical Research & Chief Scientific Officer of the NIH Clinical Center, to surmise that because carriers of CGD are “a little CGD like,” there may be a partial reduction in the number of normal white blood cells capable of producing reactive oxygen products. As a result, mothers of children with CGD could have an important protective role for the consequences of chronic inflammation, such as atherosclerosis, he said.

“Patients with CGD have loss of function of the enzyme called NOX2, which is responsible for production of oxygen products and products they generate important for host defense against infection such as hydrogen peroxide, Clorox bleach, and chlorine,” said Dr. Gallin, who is principal investigator of the X-linked CGD carrier study. “Although these products are important in host defense, they also can promote inflammation and atherosclerosis as a result of chronic inflammation of the blood vessels. In our current study, we wanted to determine if moms of patients with CGD are also protected from atherosclerosis like their CGD children. If the moms are protected from atherosclerosis, it will help us understand how much loss of function of NOX2 could be therapeutic without causing a CGD condition.”

Therefore, if you’ve ever wondered if you are at risk for heart attack or stroke, this is a good way to find out.

The results of the study will help the NIH possibly identify a new drug for atherosclerosis or possibly other conditions associated with chronic inflammation.

“If we can identify a drug that helps, in a precise way, to control inflammation this would be of major benefit for a number of medical conditions,” said Dr. Gallin.

There are benefits for those who participate. “Volunteers will have an excellent evaluation of their risks for atherosclerosis, including the carotid artery study,” said Dr. Gallin. “If any risks are identified, we will contact the volunteers and help direct them to proper medical care for further evaluation.”

The NIH will also arrange travel and accommodation for qualified volunteers. Although everyone is welcome to participate, Dr. Gallin noted that the NIH is especially looking for X-linked carriers of CGD over the age of 70.

The NIH hopes to complete this study by early fall of this year. If X-linked carriers of CGD are interested in participating in this study they should contact NIH nurse coordinator, Nicole Rooths at 301-402-1992, or click here to e-mail Nicole.    

Thank you to Dr. Gallin and all researchers involved in this study!

This content should not be used as a substitute for professional medical advice. In all cases, patients and caregivers should consult their healthcare providers. Each patient’s condition and treatment are unique. The benefits and risks of any treatment should be discussed with the patient's provider.

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