International Study on Plasminogen Deficiency Hypoplasminogenemia to Understand Its Course and Create a Biobank

What this Trial Is About

Researchers are conducting an international retrospective and prospective study to better understand hyposplasminogenemia, a condition caused by plasminogen deficiency. This study aims to define the natural history of the disease, explore the variability in how it presents in different people, identify markers that predict disease progression, and help develop improved treatments. The research is being conducted across two main centers in the Americas and Europe, gathering data from affected individuals and their first-degree family members. The study will collect both retrospective data from the past year and prospective data for three years on approximately 100 affected individuals and about 500 family members. Biological samples such as DNA and plasma will be collected and analyzed centrally in Italy, except for urine samples that will be analyzed locally. The study will test plasminogen activity and antigen levels, genetic mutations, and other factors influencing disease expression. Follow-up will include in-person visits at the start and end of the study, with telephone check-ins every six months and unscheduled visits as needed based on clinical care. Participants will be involved in providing samples and clinical information at baseline and at the end of their three-year study period. The researchers will monitor disease progression and gather data through regular telephone follow-ups and clinical visits. The main outcomes measured include the natural history of plasminogen deficiency, factors influencing disease severity, and the creation of a biobank for future research. The study is designed to improve understanding of this rare condition over a long-term observation period.

Study of Individuals Affected With Hypoplasminogenemia