Recruiting

Observational Study

Sponsor:

Indiana Hemophilia &Thrombosis Center, Inc.

Code:

NCT03797495

Conditions

Plasminogen Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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

Conditions

Plasminogen Deficiency

Study ID

NCT03797495

Start date

Dec 18, 2018

Status verified date

Mar, 2026

Completion date

Nov 26, 2029

Anticipated

Primary completion date

Jun 29, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Define the natural history of plasminogen deficiency [ Time Frame: 2 years ]
  • Identify factors that contribute to or correlate with disease expression and severity [ Time Frame: 5 years ]
  • Create a specimen biobank [ Time Frame: 15 years ]

Central Contacts and Locations

Central contacts

Amy D Shapiro, MD

317-871-0000ashapiro@ihtc.org

Charles Nakar, MD

317-871-0000cnakar@ihtc.org

Locations

The University of Alabama (UAB)

Recruiting

Birmingham, Alabama, United States, 35233

Contacts

Lisa Beatty, RN

205-638-2394lbeatty@uabmc.edu

Sharon Davis

sharonddavis@uabmc.edu

Principal Investigator:

Christina Bemrich-Stolz, MD

Rush University Medical Center

Recruiting

Chicago, Illinois, United States, 60612

Contacts

Mindy Simpson, MD

312-942-3034Mindy_L_Simpson@rush.edu

Brian Jenkins

312-563-1883Brian_H_Jenkins@rush.edu

Principal Investigator:

Mindy Simpson, MD

Indiana Hemophila @Thrombosis Center

Recruiting

Indianapolis, Indiana, United States, 46260

Contacts

Neelam Thukral, CCRC

317-871-0000nthukral@ihtc.org

Charles Nakar, MD

317-871-0000cnakar@ihtc.org

Principal Investigator:

Amy D Shapiro, MD

University of Minnesota, Pediatric Hem/Onc & Cancer Survivorship Program

Recruiting

Minneapolis, Minnesota, United States, 55455

Contacts

Sharon Hwee

612.626.3915hweex001@umn.edu

Allison Fullenkamp

612-625-6125fulle631@umn.edu

Principal Investigator:

Alex Boucher, MD

Stony Brook University | Stony Brook Medicine

Recruiting

East Setauket, New York, United States, 11733

Contacts

Nicole Muhlbauer, MD

(631) 444-9016Nicole.Muhlbauer@stonybrookmedicine.edu

Jessica Mannetta

516-329-7843Jessica.Mannetta@stonybrookmedicine.edu

Principal Investigator:

Nicole Muhlbauer, MD

SUNY Upstate Medical University, Pediatric Hematology/Oncology

Recruiting

Syracuse, New York, United States, 13210

Contacts

Karen Bilynsky, RN

315-464-7601bilynskk@upstate.edu

Andrea Dvorak, MD

315 464 5294DvorakA@upstate.edu

Principal Investigator:

Andrea Dvorak, MD

University of North Carolina at Chapel Hill

Recruiting

Raleigh, North Carolina, United States, 27599

Contacts

Soham Nanavati, BSPH

919-843-1822Soham_Nanavati@med.unc.edu

Brett Phillips, MA

Brett_phillips@med.unc.edu

Principal Investigator:

Yasmina Abajas, MD

Wake Forest University

Recruiting

Winston-Salem, North Carolina, United States, 27157

Contacts

Madeline G Hicks

336-713-3553mghicks@wakehealth.edu

Joia Johnson

336-713-3553joijohns@wakehealth.edu

Principal Investigator:

Amanda Blair, MD

Hemophilia Center of Western Pennsylvania

Recruiting

Pittsburgh, Pennsylvania, United States, 15213

Contacts

Frederico Xavier, MD

412-209-7411fxavier@hmc.psu.edu

Debbie Vehec

412-209-7564dvehec@vitalant.org

Cook Children's Medical Center

Recruiting

Forth Worth, Texas, United States, 76104

Contacts

Heather Urbanek

682-885-1244Heather.Urbanek@cookchildrens.org

Marcela Torres, MD

682 885 4007marcela.torres@cookchildrens.org

Principal Investigator:

Marcela Torres, MD

Seattle Children's Hospital

Recruiting

Seattle, Washington, United States, 98105-3901

Contacts

Gavin Roach, MD

206-884-1018Gavin.Roach@seattlechildrens.org

Shana Tang

206-884-1268shana.tang@seattlechildrens.org

Principal Investigator:

Gavin Roach, MD

Windsor Regional Hospital

Recruiting

Windsor, Ontario, Canada, N8W 1L9

Contacts

Erica Figgins, MSc

519-254-5577Erica.Figgins@wrh.on.ca

Batul Khumushi, CCRP

519 254 5577Batul.Khumushi@wrh.on.ca

Principal Investigator:

Andrea Cervi, MD

CHU Sainte-Justine

Recruiting

Montreal, Quebec, Canada, H3T 1C5

Contacts

Valerie Arsenault, MD

(514) 345-4931valerie.arsenault.med@ssss.gouv.qc.ca

Bianka Courcelle

514-345-4931bianka.courcelle.hsj@ssss.gouv.qc.ca

Principal Investigator:

Valerie Arsenault, MD

CHU de Québec Université Laval

Recruiting

Québec, Quebec, Canada, A0121

Contacts

Marie-Claude Pelland-Marcotte, MD

14185254444marie-claude.pelland-marcotte.1@ulaval.ca

Stéphanie Cyr

418 525-4444stephanie.cyr@crchudequebec.ulaval.ca

Principal Investigator:

Marie-Claude Pelland-Marcotte, MD

University of Saskatchewan

Recruiting

Saskatoon, Canada, SK S7N 0W8

Contacts

Sarah Tehseen, MBBS, MSc. FRCPC

639 998 3972Sarah.Tehseen@saskhealthauthority.ca

Rashmi Nagaraj

306-978-8306rashmi.nagaraj@usask.ca

Principal Investigator:

Sarah Tehseen, MBBS, MSc. FRCPC

More Information

Sponsor

Indiana Hemophilia &Thrombosis Center, Inc.

Last update posted

Jun 4, 2026

Last verified

Mar, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Indiana Hemophilia &Thrombosis Center, Inc. on 2026-06-04.