Active clinical trials for "Immunologic Deficiency Syndromes"

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Our study will assess and measure population effectiveness of prophylactic HPV vaccine in reducing cervical, anal, and/or oral prevalent and 6-month persistent infections among HPV-vaccinated and 757 HPV-unvaccinated Rwandan WLWH aged 18-26 years. Additional objectives include the quantification & examination of long-term antibody (into young adulthood) responses to HPV vaccination and to validate the performance (e.g., sensitivity and specificity) of a low-cost, POC (point-of-care) anti-HPV16 antibody test to determine/confirm HPV vaccination status. The findings for this study will provide necessary evidence regarding the long-term protection afforded by HPV vaccination in WLWH living in SSA, who are at the greatest risk of HPV-related cancers.

This is a study of stem cell transplantation with TBX-1400 in pediatric subjects with severe combined immunodeficiency (SCID). The donor cells are exposed to a protein that has been shown in the laboratory to improve the ability of the donor cells to make blood and immune cells after transplant. Exposure of the donor cells to this protein does not modify the genes in the cells in any way. This study has two goals. The first goal is to find out if transplant with TBX-1400 is safe. The second goal is to find out what effects TBX-1400 stem cells have on time to engraftment in pediatric subjects with SCID. The study hypothesis is that TBX-1400 cells will shorten the time to immune reconstitution after transplant.

Historically, the database on the HIV was organized within the framework of the medico-economic file of the human immunodeficiency (DMI-2), introduced jointly by the Direction of Hospitals (Mission AIDS) and the INSERM at the end of the 80s. Today this database is fed via the computerized medical record NADIS. Most part of the research works on the theme of the HIV take support on this database (DAD, EuroAIDS, Neuradapt).

The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.

The goal of this research study is to test an intervention to help quit tobacco use in participants with Human Immunodeficiency Virus (HIV). The study interventions used in this research study are: Positively Smoke Free - Mobile (PSF-M) (mobile behavioral program) Varenicline (or Chantix, apovarenicline, Champix or Nocrav)

Chronic hepatitis C virus (HCV) infection remains a health burden in people living with human immunodeficiency virus (HIV). Interferon (IFN)-based therapy is the treatment of choice for HCV infection for HIV coinfected patients in earlier years. However, the treatment responses are far from ideal and the treatment-emergent adverse events (AEs) are frequently encountered. Based on the excellent efficacy and safety, IFN-free direct acting antivirals (DAAs) have been the mainstay of therapy for HCV. Furthermore, the world health organization (WHO) has set the goal of global HCV elimination by 2030. The microelimination of HCV among HIV/HCV-coinfected patients is also listed as the prioritized target by WHO. Although the overall treatment response has improved dramatically during the past 5-10 years, several studies have indicated the HIV/HCV-coinfected patients had high risks of reinfection following successful antiviral treatment. The risk of HCV reinfection was reported to be 24.6% among HIV-positive men who have sex with men (MSM) in Austria, German, France and the United Kingdom who attained sustained virologic response (SVR) by IFN-based therapy. Two recent studies from Canada showed that the incidence of HCV reinfection in HIV-positive patients was higher that HIV-negative patients (3.44 vs. 1.13 per 100 person-year; 2.56 vs. 1.12 per 100 person-year). In Taiwan, 14.1% of the HIV-positive patients had HCV reinfection following treatment-induced or spontaneous viral clearance, resulting an incidence of 8.2 per 100 person-year with a total of 218.3 person-years of follow-up for these patients. Because data regarding to the HCV reinfection in HIV-positive patients are still limited, where a more comprehensive assessment of HCV reinfection is important based on the perspectives of HCV microelimination among HIV-positive patients in Taiwan, the investigators thus aim to conduct a long-term, large-scale cohort study to assess the risk of HCV reinfection in HIV-positive patients achieving SVR after IFN-based or IFN-free therapies, and to assess the factors associated with different risks of reinfection in these patients.

The study team plans to establish a bioregistry of patients receiving biologic therapy as part of their standard treatment at the Mount Sinai Therapeutic Infusion Center and affiliated practices. The study team will to apply state-of-the-art approaches to assessing and predicting immunological and clinical responses associated with these standards and prescribed treatments. The approach is twofold. The first component is to establish a robust and flexible biorepository and database that includes demographic, immunologic, exposure and clinical records, and can facilitate research across disciplines, and across other registries affiliated with Mount Sinai. The second component is to address specific key research questions focused on using novel diagnostics to increase the effectiveness of biologic treatment. Most patients will be recruited from the Mount Sinai Therapeutic Infusion Center (TIC), although others receiving infusions elsewhere or at home will be recruited from outpatient Sinai affiliated clinical practices.

The purpose of this study is to evaluate the Safety and Efficacy of Gene Therapy of the severe combined immunodeficiency (SCID) caused by mutations in the human DCLRE1C gene (Artemis) by transplantation of a single dose of autologous CD34+ cells transduced ex vivo with the G2ARTE lentiviral vector expressing the DCLRE1C cDNA.

Research Involving the Non-Interventional Human Subject (RIPH category 3). Non-interventional, cross-sectional, multicentre, descriptive and analytical epidemiological study. A cross-sectional, pseudo-anonymous questionnaire focusing on entry and retention in care will be administered to a sample of PLHIV presenting for consultation in one of the GHT hospitals over a 12-month period. A sample of 300 PHAs is envisaged to have sufficient power to highlight the main factors associated with periods of loss of sight. Main objective: - To identify factors associated with loss of sight for more than 12 months among people living with HIV in Guyana Secondary objectives: To identify factors associated with a delay in the introduction of ARVs among PLHIV in Guyana To describe the perception of the quality of the announcement of the diagnosis of HIV To describe the difficulties encountered by PLHIV during their hospital follow-up in French Guyana To assess the perceived stigma associated with HIV and its consequences in daily life