Active clinical trials for "Immunologic Deficiency Syndromes"

In the prospective part of the study, patients diagnosed with PID will receive replacement therapy with Cutaquig for at least 6 months and will be randomised with the help of physicians of the Russian PID Registry. At the beginning of the study, data on the prior intravenous immunoglobulin (IVIG) therapy efficacy will be extracted from patients' medical records (retrospective part of study). Also, at the beginning of the study, patients or their parents will be asked to complete Quality of Life Questionnaire for children, version 4.0; short form in Russian - Pediatric Quality of Life Inventory Russian, Version 4.0 (Russia), PedSQL (Appendix 14.1). During the 6 months of treatment with Cutaquig, investigators will enter information on infectious episodes, IgG levels (at least 3 times during the study period), and definition of an adverse drug reaction / serious adverse drug reaction, in the database. After 6 months, patients/their parents will be asked to complete the PedSQL, Quality of Life Questionnaire again. If the patient continues to receive the drug, and patient and his/her legally acceptable representatives (for patients under 14 years of age) agree to continue participating in the study, similar information will be collected for another 6 months. The first 6 months are planned for the main study period, 6-12 months for an extended study period. Data obtained in the prospective phase of the study will be compared with similar data obtained in the retrospective phase in the same patients

This study will assess the relative safety, tolerability, and participant satisfaction in participants using the rapid manual push method with Cutaquig®. The hypothesis being that treatment with Cutaquig® by rapid manual push method will improve the safety, tolerability and patient satisfaction of participants with PID or SID. Cutaquig® by rapid push is already approved in Canada and has proven to be efficacious in preventing significant infection. However, relative safety, tolerability, and patient satisfaction have not been studied in these patients. The information gained from this study will improve the safety and tolerability knowledge database and will support the optimal use of Cutaquig® - thus benefitting both physicians and patients.

The overall goal of this proposal is to investigate effects of obesity on pharmacokinetics of immunoglobulin G (IgG) and to develop strategies for optimization of dosing of IgG in obese patients. There is an ongoing debate regarding the most appropriate dosing of IgG formulations in obese patients. Obesity poses significant health risks; and evidence supporting dosing strategies of IgG in obese patients is inadequate. Some of the adverse reactions have been attributed to a relative overdosing in these patients, due to a limited distribution of IgG into fat tissue.

Though common, morbidities related to upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID) have not been fully characterized. These conditions can be difficult to distinguish due to their overlapping phenotypes. The sinonasal and middle ear features are often identified as most problematic by patients and their families, and optimal, highly effective treatment regimens have not been established. The main objective of this project is to characterize and compare the upper airway phenotypes in individuals with confirmed diagnosis of PCD and PID, and to collect critical data to inform the design of future clinical trials of treatment of the upper airway diseases. The investigators anticipate that these investigations will discern the clinical, anatomical, and pathophysiological phenotypes of paranasal sinus disease in PCD and PID, identifying disease endpoints and biomarkers that differentiate these two overlapping disorders. Findings from these studies will also enhance our understanding of middle ear disease and associated hearing loss in a cross-sectional cohort of patients with PCD and PID. Ultimately, the long-term goal of our Consortium is to elucidate underlying phenotypes and genotypes of these diseases, potentially leading to novel therapeutics that will improve the lives of affected individuals. Given the COVID pandemic, certain procedures will have the option to be converted to telehealth visits to ensure compliance with local guidelines and participant safety.

Background: People with GATA2 deficiency have a mutation on the GATA2 gene. This gene affects immune function. People with this disease are prone to serious infections; in time, they may develop blood cancers. A hematopoietic stem cell (HSC) transplant can cure GATA2 deficiency, but using stem cells donated by other people can cause serious side effects. Objective: To test a new drug (JSP191) to see if it can make HSC transplants safer. Eligibility: People aged 6 to 70 years who have GATA2 deficiency. Design: Participants will be screened. They will have a physical exam, with blood and urine tests. They will have tests of their heart and lung function. They may have a bone marrow biopsy: Their hip will be numbed; a large needle will be inserted to draw out tissue from inside the pelvis. Participants will have a central venous catheter placed in a vein of the neck or chest. This will be used to draw blood and administer drugs. JSP191 will be given through the catheter about 11 days before the transplant. This is part of conditioning: preparing the body to receive the new stem cells. Conditioning also includes other medications and total body irradiation. Donor stem cells will be administered through the catheter. Participants will receive other approved drugs to help prevent side effects. Participants will stay in the hospital from the beginning of the conditioning until several weeks after the transplant. They will remain in the local area for 100 days after discharge; they will come to the clinic at least once a week during this time. Follow-up visits will continue for 3 years.

This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of screening is being trialled well as additional sites where clinicians will be involved in the care of these babies and comparator groups are needed. The proposed work will consist of two work packages. The first, a mixed-methods study conducted with families from the point of screening information being returned through to the child's fifth birthday. The second, a qualitative interview study conducted with health professionals during the clinical evaluation phase of the national pilot programme.

This study is designed to test whether QBKPN SSI can improve immune function in older adults, including how well it can protect against respiratory and other infections, whether it improves the body's response to COVID-19 vaccines and what effect it has on maintaining or improving quality of life, activity level and health status. QBKPN is a new medication in a class known as Site-Specific Immunomodulators (SSI). SSIs are designed to train and/or improve innate immune function to reduce the risk of infections, improve immune response to cancer, and slow the progression of chronic inflammatory diseases. It is believed that QBKPN SSI can work with the immune system to help protect against respiratory and other infections.

To provide the IRB approved mechanism for the prospective collection, analysis and reporting of data on patients who are undergoing either an autologous or allogeneic hematopoietic stem cell transplant for a disease in which a research question is not being addressed and for which peer reviewed, published data have demonstrated efficacy for this treatment approach.

This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up. Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls. Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures: Medical history and physical examination. Blood and urine tests, including analysis for genes involved in immune disorders. Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek. Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations. Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include: Medical history update Physical examination Follow-up on abnormal test results and medical treatments initiated at NIH Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies Tissue study of specimens removed for medical reasons at other institutions besides NIH

RESPIRE is a randomized, unblinded, controlled study to measure the impact of a strategy based on a PCR test on the adjustment of antimicrobial therapy in immunocompromised patients suspected with ventilator-associated or hospital-acquired pneumonia (VAP/HAP) requiring mechanical ventilation (MV) in Intensive Care Unit (ICU). The gold-standard microbiological diagnostic method for pneumonia in the ICU is based on culture identification and antimicrobial susceptibility testing. Results are obtained in several days after the initiation of empiric antimicrobial therapy, exposing patients to a potential inappropriate broad-spectrum antimicrobial treatment. We aim to measure the impact of a PCR-based strategy to improve the percentage of patients with VAP or HAP receiving targeted antimicrobial therapy 24 hours after diagnosis compared to standard care