Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System
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|ClinicalTrials.gov Identifier: NCT01063309|
Recruitment Status : Completed
First Posted : February 5, 2010
Last Update Posted : July 28, 2021
- Atherosclerosis, the arterial plaques or blockages that cause heart disease, develops in many people by the time they are in their mid-20s. The rate of atherosclerosis in patients with immune system disorders has not been well studied, but it may be very different from the general population.
- Patients with chronic granulomatous disease (CGD) produce less of a group of molecules known as free radicals, which help to fight infection and may play a role in the development of atherosclerosis. Patients with CGD may develop atherosclerosis much more slowly than people without CGD. On the other hand, carrier mothers of children with genetically-linked CGD often have problems with autoimmune problems in addition to a problem with making free radicals. Patients with other immune system disorders also have very different responses to infection, and many of them also have autoimmune-like problems that may change the risk of developing atherosclerosis.
- To study the prevalence of atherosclerosis in patients with immune system disorders, compared with healthy individuals.
- Individuals at least 18 years of age who either have been diagnosed with an immune system disorder or are healthy volunteers.
- The active part of the study involves one or two visits to the National Institutes of Health Clinical Center for a series of imaging tests and scans.
- Participants will have the following tests during the active part of the study:
- (1) CAT scan to obtain images of the chest arteries and measure the amount of calcium in the artery walls.
- (2) Magnetic resonance imaging scan to obtain images of the coronary and carotid arteries in the chest and neck.
- (3) Electrocardiogram to provide data on current heart function.
- (4) Blood samples to provide data on heart, kidney, and immune system function.
- Participants will be contacted every 2 years in the future for up to 30 years to determine whether they have developed heart disease. Researchers will ask participants to provide contact information for two other people who may likely know how to get in touch with the participant in the future.
|Condition or disease|
|Atherosclerosis Chronic Granulomatous Disease (CGD)|
|Study Type :||Observational|
|Actual Enrollment :||156 participants|
|Official Title:||Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System|
|Actual Study Start Date :||January 5, 2010|
|Actual Primary Completion Date :||December 31, 2018|
|Actual Study Completion Date :||August 26, 2020|
Autosomal recessive CGD
Participants must have autosomal recessive CGD (p47phox, p67phox, or p22phox deficiency) as demonstrated by DHR or genetic screening.
Participants with confirmed as X-linked CGD carriers as demonstrated by DHR or genetic screening.
Healthy volunteers over the age of 18, both male and female. That have not been diagnosed with CGD, Inflammatory Bowel Disease, or another primary disease of the immune system.
IFN-gamma treated CGD
Participants with CGD the have been treated with Interferon gamma.
Inflammatory bowel disease
Participants with Inflammatory Bowel Disease with a well-recognized granulomatous inflammation, but normal phagocyte function and ROS production. They have not been diagnosed with CGD.
Other immune system disorders
Participants with other disorders such as Chediak-Higashi Syndrome, Leukocyte Adhesion Deficiency, myeloperoxidase deficiency, Hyper- IgE (Job's) Syndrome, IRAK4-deficiency, and NEMO-deficiency
X-linked Chronic Granulomatous Disease (CGD)
Participants diagnosed with X-linked CGD confirmed by DHR.
- Coronary CT angiography [ Time Frame: September 2009- December 2024 ]presence or absence of soft plaque
- Coronary Artery Calcium score [ Time Frame: September 2009- December 2024 ]numerical value ranging from 0 to >1000
- Coronary MRI angiography [ Time Frame: September 2009- December 2024 ]presence of absence of soft plaque
- Carotid Artery Intimal Medial Thickness [ Time Frame: September 2009- December 2024 ]numerical value (in millimeters) representing the thickness of the artery and vessel wall volume
- Carotid arterial FDG uptake [ Time Frame: September 2009- December 2024 ]target to background ratio of FDG activity measured by PET imaging.
- Circulating Markers of Cardiac Disease [ Time Frame: September 2009- December 2024 ]Lipid Profile, CRP,Myeloperoxidase analyzed for coronary artery disease risk.
- Demographic Characteristics and Questionnaire Results [ Time Frame: September 2009- December 2024 ]Standard questionnaires will be used to collect information about demographics, socioeconomic and psychosocial status, medical and family history, medication use, dietary and alcohol intakes, smoking, and physical activity. Data will be analyzed using a multivariate analysis.
- Physiologic Characteristics [ Time Frame: September 2009- December 2024 ]Physiologic data including blood pressure, heart rate, and pulse pressure will also be obtained. EKG will be assessed for electrocardiographic evidence of prior ischemic injury.
- Circulating Markers of Inflammation or Immune Dysregulation [ Time Frame: September 2009- December 2024 ]IL-8, TNF, ESR,IFN, DHR
- Cardiac MRI [ Time Frame: September 2009- December 2024 ]used to determine left ventricular wall motion and cardiac size and to determine the presence of granulomas in the ventricular wall. Results will be reported as an overall cardiac volume, left ventricular ejection fraction, the presence or absence of wall motion abnormalities, and the presence or absence of granulomas
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01063309
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||John I Gallin, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|