International Multicenter Retrospective Study of Patients with X-linked Moesin Associated Immunodeficiency (X-MAID)

What this Trial Is About

This research focuses on X-linked Moesin Associated Immunodeficiency (X-MAID), a rare immune disorder primarily affecting males. It is characterized by low levels of lymphocytes and neutrophils, leading to recurrent bacterial infections and sometimes severe viral infections. The study aims to better understand the diagnosis, clinical features, and management of X-MAID patients worldwide, given the variation in treatment approaches and outcomes observed so far. The study is an observational genetic retrospective analysis involving participants diagnosed with mutations in the moesin gene on the X chromosome. It does not involve any new treatments but reviews patient data collected internationally to establish clearer guidelines for managing X-MAID. The study includes participants from various countries and examines the clinical presentation and treatment histories ranging from no treatment to immunoglobulin substitution, antibiotic prophylaxis, or stem cell transplantation. Participants will have their medical records and genetic data reviewed to understand disease progression and treatment effects. Researchers will collect and analyze personal health data to identify patterns and outcomes related to X-MAID over an average follow-up of three years. The study focuses on improving patient care by determining the best management strategies based on clinical presentation and genetic findings, with safety and long-term outcomes also monitored.

X-linked Moesin Associated Immunodeficiency