View clinical trials related to Granulomatous Disease, Chronic.
Filter by:Background: Chronic granulomatous disease (CGD) is a disease of the immune system, which is how the body fights germs. People with CGD get infections easily and have other health problems. Some medicines to treat CGD have a lot of side effects and do not always work. Researchers want to see if a new drug can help. Objective: To see if tofacitinib is safe to use for treating chronic CGD. Eligibility: Adults aged 18 and older with CGD who have not had success with other treatments and who are enrolled on NIH study # 93-I-0119. Design: Participants will be screened with the following: Physical exam Medical history Blood, urine, and stool tests Pregnancy test, if needed An upper gastrointestinal endoscopy and/or colonoscopy, if needed for their symptoms. Tissue samples will be collected. Skin assessment, if needed Participants will repeat some screening tests at visits. Participants will complete questionnaires about their general health and how CGD affects their daily life. Photographs will be taken of their skin, if needed. They will have lung function tests, if needed. They will have a computed tomography (CT) scan of the chest, abdomen, and pelvis, if needed. A CT scan uses X-rays to create pictures of the inside of the body. Participants will gradually reduce the amount of some CGD medicines they take. Then they will take tofacitinib as a pill twice a day or once a day for 3 months. They will keep a drug diary. They will have monthly study visits. They will have a follow-up visit about 1 month after their last study drug visit. Participation will last for about 6 months.
"Kineret" (INN: Anakinra) neutralizes the biological activity of interleukin-1α (IL-1α) and interleukin-1β (IL-1β) by the concurrent inhibition of binding to interleukin-1 receptor I (IL-1RI). Interleukin-1 (IL-1) is the main pro-inflammatory cytokine that mediates many cellular responses. Anakinra inhibits the reactions caused by IL-1 in vitro, including the induction of nitric oxide and prostaglandin E2 and / or the formation of collagenase by synovial cells, fibroblasts and chondrocytes. According to published data, patients with the chronic granulomatous disease have an increased secretion of interleukin-1, which contributes to the development of granulomatous inflammation. Blocking interleukin-1 reduces the activity of the main pro-inflammatory complex - the inflammasomes, and also restores the autophagy process impaired in patients with chronic granulomatous disease. In this way, inhibition of the IL-1 receptor prevents the activation of innate immunity cells and prevents the maintenance of pathological pro-inflammatory signaling in conditions of IL-1 overproduction. The efficacy and safety of therapy with the above drug is based on the results of international studies on the using of anakinra in patients with chronic granulomatous disease.
When children with chronic granulomatous disease (CGD) got BCG infection the treatment would be a tough task. The goal of the proposed research is to observe weather vitamin D supplementation can help the CGD children get through this challenge.
Background: Bacteria that live inside the stomach and intestines are important for health. Chronic granulomatous disease (CGD) and inflammatory bowel disease (IBD) can make people have unhealthy bacteria. This can lead to gastrointestinal (GI) problems. Researchers want to see if people with CGD and IBD feel better when they change the bacteria in the stomach by following a special liquid diet. Objective: To see if an elemental diet can change the bacteria in the stomach and intestines of people with CGD and IBD. Also, to see if this helps GI symptoms. Eligibility: People ages 8-65 years with CGD, CGD-associated colitis, and IBD. Design: Participants will first be screened with: Upper GI endoscopy and/or colonoscopy. A long, thin tube with a tiny camera at the end will be passed into the participant s body through the mouth or anus. Tissue will be collected. Participants will be sedated for the procedure. They will be sedated using a special mask or small plastic tube placed in an arm vein using a needle. Participants will be put on the special diet for up to 4 weeks. They will stay in the hospital for the first 1-2 weeks. They will have check-ups. They will have blood, urine, and stool samples collected. They will keep a symptom diary to record how they feel and any GI symptoms. Participants will have 2 follow-up visits. The first will be right after they finish the diet. The second will be 4 weeks later. They will have blood, urine, and stool samples collected. They will learn about re-introducing other foods into their diet.
Background: The way the body heals and protects itself from getting sick is called the immune response. Some people with weak immune systems get sick often or get rashes and skin infections. Researchers want to find out how the immune system and skin problems are related so they can help these people. Objective: To learn about how immune response and skin healing are related to each other. Eligibility: People ages 18-65 with hyper IgE syndrome or Job syndrome or people ages 7-65 with chronic granulomatous disease. Healthy volunteers ages 18 65 are also needed. Design: Participants will be screened with: Medical history Physical exam Possible urine tests Participants will have 1 to 3 visits within about a week. Visits will include the following: Participants will have a wells device strapped to the inside of the forearm. It will suction the skin and pull the top layer away to form 8 blisters. The skin over the blisters and the liquid inside will be collected. Participants will have up to 4 skin biopsies. A sharp tool will remove a small plug of skin from the forearm. Participants may have blood and urine tests. The skin on participants skin will be rubbed with a cotton swab. Some participants will have an overnight visit. They will have the blister device placed back on the arm. The wells will be lined up over the blister wounds. The wells will be filled with either saline or the participant s blood serum. The device will be covered and left on the arm for up to 24 hours. Doctors will periodically remove some liquid from the wells.
Background: CGD causes infections and inflammation. The only cure currently is a bone marrow transplant. Most often a perfectly matched bone marrow donor is used. Researchers want to see if they can lower the risks of using a mismatched donor. Objectives: To see if it is safe to use a related bone marrow donor who is only a partial match to a person with CGD. To see how well drugs given to a person before and after transplant help the body accept the transplant. Eligibility: People ages 4-65 with CGD for whom stem cell transplant may be a cure and who do not have a perfectly matched donor, related or unrelated. Design: Participants will be screened with: Medical history Physical exam Blood tests Participants will be admitted to the hospital about 2 weeks before the transplant. They will have blood, urine, breathing, and heart tests. They may have CT and/or MRI scans. They will have a needle inserted into their hipbone to remove marrow. They will have dental, neurologic, and psychologic tests. They will have a central catheter placed: A line will be placed into a vein in their upper chest. They will get drugs, chemotherapy, and radiation to prepare for the transplant. Participants will receive the donated cells through their catheter. The cells will be from one of their relatives. Participants will stay in the hospital about 6 weeks after the transplant. After they leave the hospital, participants will have to stay in the area with visits about 2 times a week for approximately 100 days post transplant. Then visits will be every 3 to 6 months for 2 years. Then visits will be once a year.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
This is a Phase I/II clinical trial of gene therapy for treating Chronic Granulomatous Disease using a high-safety, high-efficiency, self-inactivating lentiviral vector TYF to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the TYF-CGD gene transfer clinical protocol.
The overall goal of the study is to investigate the functional, biochemical, and gene expression effects of Interferon-gamma 1-b (IFN-γ) on the neutrophils of patients with Chronic Granulomatous Disease (CGD). The investigators hypothesize that the clinical effects demonstrated in patients with CGD treated with IFN-γ (decreased number and severity of infections) are the result of biochemical processes and upregulation of specific genes, which lead to enhanced functionality of this immune cell population.
Treatment Study to assess of safety and efficiency of conditioning with Plerixafor and G-CSF as additional agents for prevention of graft failure after transplantation in patients with chronic granulomatous disease