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