Tracking Cross-Reactive Immunological Material CRIM and Long-Term Outcomes in People with Pompe Disease

What this Trial Is About

Infantile-onset Pompe disease is a rare inherited condition caused by a deficiency of the enzyme acid alpha-glucosidase GAA, leading to harmful glycogen buildup, especially in the heart and muscles. This research aims to understand the natural history of Pompe disease and how patients respond to enzyme replacement therapy ERT with alglucosidase alfa LumizymeMyozyme, along with immune responses that may affect treatment outcomes. The study also examines the role of Cross-Reactive Immunological Material CRIM status, which influences how well patients tolerate ERT, and the impact of immunosuppressive therapy on antibody development. Participants diagnosed with Infantile Pompe disease will be followed over time in this longitudinal observational study. Researchers will collect and review medical records regularly, focusing on diagnosis, clinical signs, laboratory results, and response to treatments, including ERT and immune tolerance induction. The study aims to correlate CRIM status with gene variants causing Pompe disease and to explore how immune responses affect treatment effectiveness and patient outcomes. During the study, participants medical information will be monitored, including antibody testing and clinical assessments to track disease progression and treatment response. The main outcome measured is the clinical response to ERT with alglucosidase alfa over up to 18 years, along with the response to immune tolerance induction. This long-term follow-up helps researchers better understand treatment challenges and disease development in individuals with Pompe disease.

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease