Study of Individuals Affected With Hypoplasminogenemia

Condition(s) studied

Study summary

This is an Investigator initiated retrospective and prospective single cohort study. The study will utilize an international registry and develop a specimen biobank to provide an improved understanding of the natural history of hyposplasminogenemia, to elucidate the heterogeneity of phenotypic expression, identify markers to predict disease course, and inform improved therapeutic modalities

Eligibility

Primary outcome measure(s)

• Define the natural history of plasminogen deficiency — 2 years
  1. Recruit 100 subjects with hypoplasminogenemia and their first-degree family members 2. Collect up to 1 year retrospective and 3 year prospective data on symptoms, treatment and interventions
• Identify factors that contribute to or correlate with disease expression and severity — 5 years
  1. Perform centralized plasminogen activity and antigen analyses 2. Perform centralized genetic analysis to identify changes in the plasminogen gene 3. Perform centralized analysis of polymorphisms that affect plasminogen activity levels and impact fibrinolysis 4. Perform local urine analysis 5. Collect samples to explore the interaction of altered plasminogen proteins with bacterial strains
• Create a specimen biobank — 15 years
  Bank plasma, serum and DNA on consenting enrolled subjects

Trial sites (35)