Medically Assisted Fertilization Techniques in Systemic Immunoreumatologic Diseases
Rheumatic DiseasesFertility Disorders4 moreSystemic rheumatological diseases often occur in young women of childbearing age and can therefore impact fertility. There are diseases, such as arthritis, which present no contraindication to assisted reproductive techniques (ARTs), because there is no influence on the disease itself if the disease activity at conception is stable. On the other hand, patients suffering from connective tissue diseases, primarily Systemic Lupus Erythematosus (SLE) and patients suffering from primary or SLE-related Anti-Phospholipid Antibody Syndrome (APS), deserve more targeted therapies both in the context of ARTs and in the ensuing pregnancy. To evaluate the response to ARTs in patients with systemic rheumatological diseases, both in terms of reactivation of the underlying pathology and in terms of ARTs outcome.
Molecular Prediction of Development, Progression or Complications of Kidney, Immune or Transplantation-related...
Acute Kidney InjuryChronic Kidney Diseases4 moreManaging patients with renal failure requires an understanding of the molecular mechanisms that lead to its occurrence (i.e. upstream of the disease), its worsening and its persistence (i.e. downstream), while also specifying the risk of worsening renal failure (risk stratification, intolerance to the treatment or complications (infectious, metabolic, cardiovascular, cancer…). Nephrogene 2.0 aims to study these different components of kidney, immune and solid organ transplantation (SOT)-related diseases.
Genetic Analysis of Immune Disorders
DOK 8STAT13 moreThe purposes of this study are to 1) identify the genes responsible for certain immune disorders, 2) learn about the medical problems they cause, and 3) learn how to predict who is likely to develop these disorders and what the risk is of passing them on to children. The immune system is the body s defense system. Some immune deficiencies impair a person s ability to fight infections; others render a person susceptible to allergies, or to autoimmune diseases such as lupus or arthritis, in which the immune cells (white blood cells) attack and destroy the body s own tissues. Patients with immune disorders known or suspected to have a genetic basis and their family members may enroll in this study. Eligibility will be determined by a review of the patient s medical records and family medical history. Participants will provide a small blood sample for genetic (DNA) and white blood cell analysis. Gene samples (but not white blood cells) may also be obtained by mouth brushing or skin biopsy. For the mouth brushing, a small brush is rubbed against the inside of the cheeks for 1 minute to wipe off some cells. For the skin biopsy, a small circle of skin (about 1/8 inch) is removed under local anesthetic. Pregnant women may be asked to provide a fetal sample (amniotic fluid cells or chorionic villus sample). All samples will be used for immune or genetic studies of the family s immune disorder. If test results show a specific genetic variation responsible for the family s immune disorder, a report will be sent to the patient s doctor or genetic counselor, who will discuss the implications for the family. NIH researchers and genetic counselors will also be available to explain results and answer questions. Information will not be available in the case of disorders that cannot yet be linked to a specific genetic abnormality. Information from this study will increase knowledge about the immune system and what causes immune deficiencies. Participants may also learn the underlying cause of an immune disorder that affects them or someone in their family information may be useful in guiding treatment and in making decisions regarding family planning.
PRINCE Study - Cohort Study of Healthy Pregnant Women Followed by the Assessment of Children´s Health...
PregnancyImmune System DisorderIn the PRINCE study we recruit healthy but also diseased pregnant women into a cohort study, followed by the assessment of children´s health and immunity at birth and during the first 10 years of life. This unique cohort allows for testing the impact of prenatal challenges on children´s health.
Collection of Immunology Specimens From Patients With Cancer or Blood Disorders, and Healthy Volunteers...
Healthy SubjectHematologic and Lymphocytic Disorder3 moreThis research trial collects and stores blood, tissue, and bone marrow specimens from patients with cancer or blood disorders, and healthy volunteers to study the immune system in a variety of different types of experiments, as well as associated clinical data as appropriate, focused on understanding mechanisms of immunotherapy.
Support-t Online Training in Youth Living With Type 1 Diabetes Transitioning to Adult Care
Diabetes MellitusDiabetes Mellitus6 moreThe investigators will conduct a randomized controlled trial (RCT) to examine how an online training and peer support platform could help the preparation to transition to adult care. Among 14-16 year old youth with Type 1 Diabetes (T1D), the investigators aim to assess the effect of an online training and peer support platform (Support-t) integrated in usual care, compared with usual care on Hemoglobin A1c (HbA1c), adverse outcomes and psychosocial measures during the preparation for transition to adult care. The investigators will conduct a multi-site, parallel group, blinded (outcome assessors, data analysts), superiority RCT of adolescents with T1D (14-16 years of age) followed at one of 4 university teaching hospital-based pediatric diabetes clinics in the province of Quebec.
COVID-19, Aging, and Cardiometabolic Risk Factors Study
Covid19Obesity4 moreCOVID-19 pandemic has made a tremendous impact on Indonesian economic and health care system especially with the double burden of diseases facing by Indonesia as a developing country. The prevalence of non-communicable diseases such as obesity, type diabetes, and cardiovascular diseases is increasing. These diseases along with older age have been known as an established risk factors for higher mortality and severe clinical disease entity in COVID-19 infection. Although, there is still some part of patients with these co-morbidities that only present with mild symptoms when infected with SARS-CoV-2, even for some without any symptoms. Thus, it would be very interesting to evaluate how are these role of aging and cardiometabolic parameters in the clinical disease course of COVID-19 infection, and how are the relationship with the immune system.
T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders
Hemophagocytic LymphohistiocytosisX-Linked Lymphoproliferative Disorders5 moreThe 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.
Antibody Production in Immune Disorders
Primary Immune DeficiencyThis study will evaluate immune function in people with a known or suspected immune disorder. It will determine participants immune response to vaccines by measuring blood antibody levels after vaccination. Patients enrolled in a NIH protocol involving immune reconstitution (bone marrow transplantation or gene therapy) for a known or suspected primary immune disorder may be eligible for this study. Participants may be asked to have more than one vaccine, based on their age, use of IVIG, past immunization history and underlying immune problem. The possible vaccinations include: Rabies vaccine Diphtheria and tetanus booster 23 valent pneumococcal polysaccharide vaccine Pneumococcal 7-valent conjugate vaccine The diphtheria, tetanus, pneumococcus and rabies vaccines are approved by the Food and Drug Administration (FDA) and used routinely to protect against disease. Study participants will have a blood sample drawn before vaccination. The number of additional samples collected will vary according to the vaccines administered; 1 for rabies; 1 for tetanus; and 1 to 2 for the pneumococcal vaccines. Each sample will be up to 5 teaspoonfuls. Participation in the study may last up to a year, depending on the blood sampling scheduling
Safety, Pharmacokinetics, and Preliminary Efficacy of Isatuximab in Patients Awaiting Kidney Transplantation...
Immune System DisorderPrimary Objectives: Phase 1: To characterize the safety and tolerability of isatuximab in kidney transplant candidates. Phase 2: To evaluate the efficacy of isatuximab in desensitization of participants awaiting kidney transplantation. Secondary Objectives: Phase 2: To characterize the safety profile of isatuximab in kidney transplant candidates. To characterize the pharmacokinetic (PK) profile of isatuximab in kidney transplant candidates. To evaluate the immunogenicity of isatuximab. To assess the overall efficacy of isatuximab in desensitization of participants awaiting kidney transplantation.