Increasing our Understanding of Plasminogen Deficiency

WHAT ARE THE AIMS OF THE PLASMINOGEN DEFICIENCY STUDY?

The intent of the Plasminogen Deficiency Study is to enable research that leads to an improved understanding of plasminogen deficiency including definition of severity categories to assist in prediction of clinical course. To accomplish this goal, the Plasminogen Deficiency Study will:

• Recruit and characterize the clinical and phenotypic course in families with at least one member affected by plasminogen deficiency throughout the world
• Collect data on plasminogen deficiency in a continuous prospective fashion
• Assess the diagnostic value of basic and advanced assays of coagulation for plasminogen deficiency
• Ascertain the genetic basis and heterogeneity of plasminogen deficiency
• Elucidate the relationship between identified genetic defects and clinical / laboratory phenotype
• Evaluate key genetic polymorphisms for a relationship to phenotypic heterogeneity of plasminogen deficiency