Study of Individuals Affected With Hypoplasminogenemia

Last updated: October 30, 2024
Sponsor: Indiana Hemophilia &Thrombosis Center, Inc.
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT03797495
HISTORY
  • All Genders

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 Criteria

Inclusion

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 activitylevels <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 exceptfor 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

Exclusion Criteria:

  1. Previous organ transplant recipient

  2. Any psychiatric disorder, other mental disorder, or any other medical disorder thatimpairs the subject's ability to give informed consent or to comply with therequirements of the study protocol

  3. Refuses to provide informed consent

  4. Special patient populations, including prisoners or, are deemed medically orcognitively unsuitable for research by their treating physician

  5. Inability to obtain a blood sample due to poor or limited venous access

Study Design

Total Participants: 100
Study Start date:
December 18, 2018
Estimated Completion Date:
April 19, 2027

Study Description

The aims of this study are to:

  1. Define PLGD natural history in a large cohort of individuals with hypoplasminogenemia and their first-degree family members.

  2. Identify factors that correlate with disease expression and severity.

  3. Create a specimen biobank for further studies, available to other researchers.

The project will be international in scope with two collaborating centers that have created and will collect the subject data and samples. In North/Central/South America, the Indiana Hemophilia & Thrombosis Center (IHTC) will serve as the primary site while University of Milan will serve as the center for all other sites. The database is housed at the University of Milan, Italy.

Study population will include males and females affected with hyposplasminogenemia of any age. Both one-year retrospective and three-year prospective data will be collected on an international cohort of 100 affected individuals and their first degree family members (parents, siblings; total estimated study population ~500).

Study sample analysis, except for urine analyses, will be centralized and performed in Italy; the plasminogen antibody analysis will be batched for analysis, and the urine analyses will be performed locally. A sample biorepository will be created and ultimately housed in Italy. The study will provide testing for plasminogen activity and antigen, plasminogen genetic analysis, polymorphisms in genes that impact plasminogen expression and fibrinolysis, and global hemostatic assays. In addition, stored samples will be used for further testing and analyses to potentially include whole genome sequencing to further identify plasminogen genetic mutations as needed and to investigate other genetic modifiers of disease expression. An exploratory aim includes investigating the potential relationship with streptococcal strains and altered plasminogen products.

The study period will be 3 years for each enrolled subject. In-person visits will be conducted and samples for analysis will be collected at baseline and at end of study. Interval follow-up will be performed every 6 months by telephone. data will be collected at unscheduled visits that are performed for clinical need at the treating physician's discretion.

Connect with a study center

  • Hospital Britanico Buenos Aires

    Buenos Aires, C1280
    Argentina

    Active - Recruiting

  • Murdoch Children's Research Institute, The Royal Children's Hospital

    Melbourne, Victoria 3052
    Australia

    Active - Recruiting

  • Medical University of Innsbruck, University Clinic for Pediatrics and Adolescent Medicine

    Innsbruck, A-6020
    Austria

    Active - Recruiting

  • CHU Sainte-Justine

    Montréal, Quebec H3T 1C5
    Canada

    Active - Recruiting

  • CHU de Québec Université Laval

    Québec, A0121
    Canada

    Active - Recruiting

  • University of Saskatchewan

    Saskatoon, SK S7N 0W8
    Canada

    Active - Recruiting

  • Alexandra Hospital, Athens, Hematology Department

    Athens, 11528
    Greece

    Active - Recruiting

  • Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,

    Milano, 20122
    Italy

    Active - Recruiting

  • University Hospital of Padova

    Padua, 35100
    Italy

    Active - Recruiting

  • Faculty of Medicine, Chiang Mai University

    Chiang Mai, 50200
    Thailand

    Active - Recruiting

  • Dokuz Eylul University pediatric Pulmonology, Allergy and Clinical Immunology

    Izmir, Balçova 35330
    Turkey

    Active - Recruiting

  • Istanbul University Cerrahpsasa, Cerrahpsasa Medical Faculty Pediatric Hematology and Oncology Department

    Istanbul, 34098
    Turkey

    Site Not Available

  • Istanbul Üniversitesi Onkoloji Enstitüsü

    Istanbul, 34093
    Turkey

    Active - Recruiting

  • Yuzuncu Yil University Faculty of Medicine Department of Ophthalmology

    Van, 65040
    Turkey

    Active - Recruiting

  • Rush University Medical Center

    Chicago, Illinois 60612
    United States

    Active - Recruiting

  • Indiana Hemophila @Thrombosis Center

    Indianapolis, Indiana 46260
    United States

    Active - Recruiting

  • Stony Brook University | Stony Brook Medicine

    East Setauket, New York 11733
    United States

    Active - Recruiting

  • Hemophilia Center of Western Pennsylvania

    Pittsburgh, Pennsylvania 15213
    United States

    Active - Recruiting

  • Vanderbilt Children's Hematology-Oncology

    Nashville, Tennessee 37232
    United States

    Active - Recruiting

  • Cook Children's Medical Center

    Fort Worth, Texas 76104
    United States

    Active - Recruiting

  • The University of Texas Health Science Center at Houston

    Houston, Texas 77030
    United States

    Active - Recruiting

  • Seattle Children's Hospital

    Seattle, Washington 98105-3901
    United States

    Active - Recruiting

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