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Study of Individuals Affected With Hypoplasminogenemia

Plasminogen Deficiency

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

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Participation Requirements

  • Sex:

    ALL
  • Eligible Ages:

    0 and up

Participation Criteria

Inclusion Criteria:

1. Signed informed consent and assent as applicable (Appendix 1)
2. A. Males or females with type 1 PD diagnosed locally with plasminogen activity levels \<50% OR B. First degree family members of a person diagnosed with type 1 PD (includes parents, siblings, half-siblings)
3. All ages included
4. Available clinical history and treatment for at least 1 year prior to entry except for infants \< 1 year of age
5. Willingness to provide samples for analysis including DNA, plasma etc.
6. Willingness to participate in prospective follow-up for up to 3 years

Exclusion Criteria:

1. Previous organ transplant recipient
2. Any psychiatric disorder, other mental disorder, or any other medical disorder that impairs the subject's ability to give informed consent or to comply with the requirements of the study protocol
3. Refuses to provide informed consent
4. Special patient populations, including prisoners or, are deemed medically or cognitively unsuitable for research by their treating physician
5. Inability to obtain a blood sample due to poor or limited venous access

Study Location

CHU Sainte-Justine
CHU Sainte-Justine
Montréal, Quebec
Canada

Contact Study Team

Primary Contact

Valerie Arsenault, MD

[email protected]
(514) 345-4931
Backup Contact

Bianka Courcelle

[email protected]
514-345-4931
Study Sponsored By
Indiana Hemophilia &Thrombosis Center, Inc.
Participants Required
More Information
Study ID: NCT03797495