Elqui

Researchers are tracking patients with Fabry disease through an ongoing international observational program called the Fabry Registry. This registry collects routine clinical outcomes for patients regardless of whether they are receiving treatment. The study aims to better understand the diseases variability, progression, and natural history, including in women who carry one copy of the gene, and to help improve patient care by developing monitoring recommendations and reporting outcomes. Additionally, the registry evaluates the long-term safety and effectiveness of Fabrazyme4, a treatment used in Fabry disease. The registry includes a special pregnancy sub-registry for women with Fabry disease who are pregnant or have been pregnant. This sub-registry observes pregnancy outcomes and infant growth up to 36 months after birth, collecting medical and obstetric history and treatment details. No experimental treatments are given participants continue to receive their usual care as determined by their physicians. Data from both registries support regulatory requirements and ongoing research. Participants undergo regular clinical assessments and receive standard care from their doctors throughout the study. The research team collects data on disease progression, treatment effectiveness, pregnancy outcomes, and infant development. The study is observational, meaning no study drugs or procedures are administered. The total participation can last up to 33 years, allowing for long-term monitoring of safety and outcomes related to Fabry disease and pregnancy.

This trial investigates whether tuberculosis preventive treatment TPT given during the window period after exposure can reduce new tuberculosis infections in children and adolescents who live with someone newly diagnosed with pulmonary tuberculosis. The study compares the rate of new infections, measured by IGRA Interferon-Gamma Release Assay conversion at 12 weeks, between those who receive immediate preventive treatment and those who receive standard care where treatment is only given if infection is detected. The goal is to better prevent tuberculosis infection and contribute to global elimination efforts. Participants are assigned to one of two groups. In the intervention group, all children and adolescents receive weekly doses of isoniazid and rifapentine for 12 weeks regardless of their initial IGRA test results. In the control group, only those who test positive on the IGRA test at the start receive this 12-week treatment. Those in the control group who convert to IGRA-positive during the study will also receive treatment following standard care guidelines. During the study, all participants will have IGRA testing at enrollment and again after 12 weeks to detect new infections. Researchers will monitor treatment effects and adverse events related to the 3HP regimen, as well as measure changes in immune response levels. The study lasts 12 weeks with close follow-up to assess the incidence of tuberculosis infection and the safety of the preventive treatment in this young population.