Active clinical trials for "Immunologic Deficiency Syndromes"

Primary immunodeficiency is a clinically, immunologically, and genetically heterogeneous group of diseases that occur as a result of quantitative and/or qualitative deficiency of one or more cellular and molecular components belonging to the immune system. This classification, called the International Classification of Functioning, Disability and Health ( ICF), constitutes a common language and perspective for the definition of health and health-related conditions. This study aimed to evaluate the body structure function, activity and participation limitations of adult immunodeficiency patients within the scope of ICF and to compare body structure function, activity and participation limitations and compare with healthy people.

Patients are frequently evaluated by physicians for medical work-up of HIV indicator conditions in hospital and in primary care at the general practitioner. Testing for HIV is indicated with HIV indicator disorder but often omitted in clinical work-up. Besides the fact that HIV testing is forgotten, there are other reasons such as an underestimation of the risk of HIV in the event of indicator disorders, stigma and difficulties in discussing the test with a patient. Also and more relevant for primary care than for the hospital, practical challenges can exist for a patient to go to a laboratory, or costs are a hurdle. This project focuses on improving HIV indicator condition driven testing in different settings of the HIV epidemic, initially in the Netherlands as low HIV prevalence setting followed by an assessment of its benefit in different international settings. A specific focus will also be on the Rotterdam area in the Netherlands which has a high prevalence of undiagnosed HIV in the Netherlands. The ultimate aim is to decrease the number of undiagnosed HIV in populations, improve the 90-90-90 HIV cascade of care goals particularly its first pillar, and to help supporting the UNAIDS goal to end HIV/AIDS

The goal of our study is to assess the cellular immune responses of participants with antibody deficiency disease before and after immunization with SARS-CoV-2 mRNA vaccines.

Primary immunodeficiencies (PID) are a heterogeneous group of diseases that occur as a result of disorders that affect the development, differentiation and/or function of various cells and building blocks in the immune system. Among the symptoms and complications of PID, pulmonary complications are very common and significantly increase the morbidity and mortality of the disease.

Many genetic diseases of lymphohematopoietic cells (such as sickle cell anemia, thalassemia, Diamond-Blackfan anemia, Combined Immune Deficiency (CID), Wiskott-Aldrich syndrome, chronic granulomatous disease, X-linked lymphoproliferative disease, and metabolic diseases affecting hematopoiesis) are sublethal diseases caused by mutations that adversely affect the development or function of different types of blood cells. Although pathophysiologically diverse, these genetic diseases share a similar clinical course of significant progressive morbidity, overall poor quality of life, and ultimate death from complications of the disease or its palliative treatment. Supportive care for these diseases includes chronic transfusion, iron chelation, and surgery (splenectomy or cholecystectomy) for the hemoglobinopathies; prophylactic antibiotics, intravenous immunoglobulin, and immunomodulator therapies for the immune deficiencies; and enzyme replacement injections and dietary restriction for some of the metabolic diseases. The suboptimal results of such supportive care measures have led to efforts to implement more aggressive therapeutic interventions to cure these lymphohematopoietic diseases. The most logical strategies for cure of these diseases have been either replacement of the patient's own hematopoietic stem cells (HSC) with those derived from a normal donor allogeneic bone marrow transplant (BMT) or hematopoietic stem cell transplant (HSCT), or to genetically modify the patient's own stem cells to replace the defective gene (gene therapy).

Background: The immune system defends the body against disease and infection. Immune deficiencies are health conditions that decrease the strength of this response. Vaccines stimulate the immune system to create a defense against a specific type of germ. Researchers want to compare immune system responses to COVID-19 vaccines in people with and without immune deficiencies. Objective: To learn about how people with immune deficiencies respond to COVID-19 vaccines. Eligibility: People age 12 and older with an immune deficiency who plan to get a COVID-19 vaccine. Healthy volunteers are also needed. Design: Participants will be screened with a medical record review. Participants will give a blood sample before they get their first COVID-19 vaccine. Blood will be drawn from an arm vein using a needle. Blood can be drawn at the NIH, at a local doctor s office, or at a laboratory. It may also be drawn through a fingerstick at home. Participants will also complete 2 online surveys about their health and COVID-19 history. Participants will give a second blood sample 2 to 4 weeks after they get the vaccine. They will complete 2 surveys about changes in their health and side effects from the vaccine. If participants get a second (booster) vaccine, they will repeat the blood draw and surveys 3 to 4 weeks later. Participants may give 3 optional blood samples in the 24 months after their last vaccine. They may also give saliva samples every 2 weeks while they are in the study. Participation will last from 1 month to 2 years after the participant s last vaccine.

This 96 week, Phase 2b study in 150 HIV-1 infected antiretroviral (ART) naive adult subjects consists of a dose-ranging evaluation of GSK2248761 at blinded doses of 100 mg and 200 mg once daily with a control arm of open-label efavirenz (EFV) 600 mg once daily. The background ART for all 3 arms will be chosen by the Investigators and will be either abacavir/lamivudine [ABC/3TC] or tenofovir/emtricitabine [TDF/FTC] fixed dose combination (FDC) tablets. Antiviral activity, safety, PK, and development of viral resistance will be evaluated.

Octagam is a human normal immunoglobulin (IGIV) solution for intravenous administration. Octagam 5% is currently registered in more than 60 countries. This study will evaluate the efficacy, safety and the kinetics of Octagam 10% for replacement therapy in primary immunodeficiency diseases.

This phase I/II trial studies the side effects of fludarabine phosphate, cyclophosphamide and total-body irradiation followed by donor bone marrow transplant and cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus in treating patients with primary immunodeficiency disorders or noncancerous inherited disorders. Giving low doses of chemotherapy and total-body irradiation before a bone marrow transplant helps prepare the patient's body to accept the incoming donor's bone marrow and decrease the risk that the patient's immune system will reject the donor's stem cells. When the healthy stem cells from a donor are infused into the patient they may help the patient's bone marrow make stem cells, red blood cells, white blood cells, and platelets. Sometimes the transplanted cells from a donor can make an immune response against the body's normal cells called graft versus host disease. Giving cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus after the transplant may help decrease this from happening.

The hypothesis is to determine if a preparative regimen of busulfan, cyclophosphamide, and antithymocyte globulin (ATG) plus allogeneic stem cell transplantation will be effective in the treatment of immune deficiencies and histiocytic disorders.