Principal Investigator: Ming Lim
Keywords: ATHN , Thrombosis , Coagulation , Hematology Department: Hematology
IRB Number: 00131251
Specialty: Hematology/BMT
Sub Specialties:
Recruitment Status: Recruiting

Contact Information

Katherine Termath

Brief Summary

This is a multi-center project in which the American Thrombosis & Hemostasis Network (ATHN)
will offer free genotyping to individuals with Rare Coagulation Disorders (RCD). The primary
goal is to leverage the infrastructure at ATHN affiliated Hemophilia Treatment Centers (HTCs)
and the laboratory services at CIBD to document genetic data on the population of RCD
patients being cared for in U.S. HTCs. The project will enroll approximately 1,300 participants.
Participants must have an established RCD diagnosis, must currently receive or have received
care at an ATHN affiliated HTC, and must have opted into the ATHNdataset. After consent and
HIPAA authorization are signed, one blood sample will be collected at the HTC and sent to the
Center for Inherited Blood Disorders (CIBD) for genetic testing. Details on the collection,
processing, and shipping of blood samples for genetic testing will be provided to HTCs in
supplemental project materials. The testing will be performed under the direction of Dr. Diane
Nugent. Samples will be batched and delivery of results to HTCs is estimated at nine months.

Inclusion Criteria

Participants must have an established Rare Coagulation Disease diagnosis, must currently receive or have received care at an ATHN affiliated Hemophilia Treatment Center, and must have opted into the ATHNdataset. 

Qualifying Primary RCD Diagnosis

ADP Receptor Defect


Bernard Soulier syndrome

Collagen Receptor Defect

Congenital Hemolytic Uremic Syndrome

Congenital Thrombotic Thrombocytopenia Purpura

Dysfibrinogenemia, hereditary

Factor I, hereditary

Factor II, hereditary

Factor V, hereditary

Factor VII, hereditary

Factor X, hereditary

Factor XI, hereditary

Factor XIII, hereditary

Factors V & VIII, combined

Giant Platelet Disorder

Glanzmann Thrombasthenia



MTHFR, heterozygous

MTHFR, homozygous

PAI-1 Deficiency

Plasminogen Deficiency

Platelet Function Disorder, hereditary


Thrombophilia, hereditary

Thromboxane Receptor Defect

Wiskott-Aldrich Syndrome

Exclusion Criteria