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
Plasminogen Deficiency (PLGD)
Plasminogen deficiency or hypoplasminogenemia (PLGD) is an ultra-rare disease caused by a deficiency or absence of plasminogen in the blood. PLGD is characterized by inflamed growths or lesions on mucous membranes. The most commonly recognized clinical presentation is ligneous conjunctivitis affecting ~80% of identified cases. The lesions are often painful, compromise organ function, and may create medical emergency such as respiratory compromise, renal failure, etc.
Affected individuals may experience a variety of lesions in terms of their location, size and affected organ system. The prognosis depends on the extent and site of the lesions; patients may experience substantial morbidity, or mortality. At this time, the genetic mutation or plasma plasminogen actvity do not predict the clinical course.
What does the Plasminogen deficiency study entail?
The Plasminogen Deficiency Study will be three years for each enrolled subject and include seven data entry points per patient over three years (click table to enlarge). Two in-person visits will be performed to obtain laboratory evaluation at baseline and study end; other visits may be performed via telephone contact.
What does the Plasminogen deficiency study provide?
Centralized genetic analysis and plasminogen activity and antigen levels will be performed without charge as part of the Plasminogen Deficiency Study. Some study site costs are supported.