View clinical trials related to Granulomatous Disease, Chronic.
Filter by:Background: PIDD stands for primary immune dysregulation. It is a general term that includes many different inherited immune system disorders. The immune system is the part of the body that helps fight disease and infection. People with PIDDs can develop many kinds of health problems. One of these is inflammatory bowel disease (IBD), which causes diarrhea and cramping. Researchers want to learn more about these disorders to develop possible treatments. Objective: To learn more about when and why IBD may develop in some people with PIDDs. Eligibility: People ages 3 and older who have PIDD or IBD. Healthy volunteers in this age group are also needed. Design: Visit 1: Participants will be screened with physical exam, medical history, and blood and urine tests. Visit 2: Participants will: - Have more physical exams and blood and urine tests. - Answer questions about quality of life and food history. - Provide a stool sample. - Have nasal and rectal skin swabs. - Have saliva collected. Participants will have 1 follow-up visit per year. They will repeat visit 2 procedures. Participants will be contacted by phone or email in between yearly visits. They will be asked about their health. They will complete a quality-of-life questionnaire and send a stool sample that is collected at home. If participants experience a sudden change in symptoms or undergo a new treatment, they may be asked to complete visit 2 procedures. If participants are not able to come to NIH, study data and samples can be collected without an in-person visit. Participants will have a final study visit about 10 years after Visit 1. They will repeat visit 2 procedures.
Background: - Abscesses are a pocket of infection in an organ or tissue. Patients with a disease called chronic granulomatous disease (CGD) often develop these abscesses. CGD is an inherited disorder that affects how white blood cells function. Liver abscesses in people with CGD often require surgery to remove them and treat the infection. However, some people with CGD cannot have full surgery because it would be too risky. Researchers want to try a procedure called radiofrequency ablation (RFA) to treat these liver abscesses. RFA can usually be done without a major operation. This study will see if RFA is a safe and effective treatment for liver abscesses in patients with CGD. Objectives: - To see if RFA is a safe and effective treatment for CGD-related liver abscesses. Eligibility: - Individuals between 18 and 75 years of age with CGD who have liver abscesses that cannot be treated with surgery. Design: - Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. Imaging studies will be performed on the liver. - Participants will have RFA for the abscesses. RFA is an image-guided technique that heats and destroys specific tissue, such as tumor tissue. It will target any abscesses on the liver. - After the procedure, participants will stay in the hospital for monitoring before being released. - Participants will have regular follow-up visits for up to 1 year after treatment. Blood and urine samples will be collected. Additional imaging studies will be performed.
Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which patients suffer from severe infection and inflammation. The first indication of disease usually appears in early childhood. The basic defect found to be lie in specialised white blood cells called phagocytic cells, which are responsible for engulfing and destroying germs. In CGD, there is a defect in an enzyme (known as NADPH-oxidase) that is responsible for generating bleach like substances that are important for killing some important germs. In the form of the disease known as X-CGD (which accounts for two thirds of patients), there are defined mistakes in a gene called gp91-phox, which is a key part of the NADPH-oxidase. In many cases, patients can be protected from infection by constant intake of antibiotics. However, in others potential life-threatening infections break through. In some cases patients also develop serious inflammation requiring high doses of drugs such as steroids. CGD can be cured by bone marrow transplant, but the best results are available when there is matched donor available. Transplant from unmatched donor have a much worse outcome. Gene therapy of CGD can be performed by introducing a normal copy of human gp91-phox gene into the blood forming stem cells of patients' bone marrow by using a gene carrier (in this study called lentiviral vector). After treatment of the bone marrow cells in a specialised laboratory are given back to the patient and will grow into functional phagocytic cells.