Study of Individuals Affected With Hypoplasminogenemia

Description

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

Conditions

Plasminogen Deficiency

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Study Overview

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Study Details

Study overview

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

Hypoplasminogenemia: An International RetroSpecTive and PrOspective CohoRt StudY (HISTORY)

Study of Individuals Affected With Hypoplasminogenemia

Condition
Plasminogen Deficiency
Intervention / Treatment

-

Contacts and Locations

Chicago

Rush University Medical Center, Chicago, Illinois, United States, 60612

Indianapolis

Indiana Hemophila @Thrombosis Center, Indianapolis, Indiana, United States, 46260

East Setauket

Stony Brook University | Stony Brook Medicine, East Setauket, New York, United States, 11733

Pittsburgh

Hemophilia Center of Western Pennsylvania, Pittsburgh, Pennsylvania, United States, 15213

Nashville

Vanderbilt Children's Hematology-Oncology, Nashville, Tennessee, United States, 37232

Fort Worth

Cook Children's Medical Center, Fort Worth, Texas, United States, 76104

Houston

The University of Texas Health Science Center at Houston, Houston, Texas, United States, 77030

Seattle

Seattle Children's Hospital, Seattle, Washington, United States, 98105-3901

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • 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

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Indiana Hemophilia &Thrombosis Center, Inc.,

Amy D Shapiro, MD, PRINCIPAL_INVESTIGATOR, Indiana Hemophilia &Thrombosis Center, Inc.

Flora Peyvandi, MD, PhD, PRINCIPAL_INVESTIGATOR, Univeristy of Milan

Study Record Dates

2027-04-19