ATHN 10: Leveraging the ATHNdataset to Document the State of Rare Coagulation Disorders in the United States

The primary goal of ATHN 10: Rare Coagulation Disorders (RCD) Project is to leverage the infrastructure at ATHN-affiliated hemophilia treatment centers (HTCs) and the laboratory services at Center for Inherited Blood Disorders (CIBD) to document genotypic and phenotypic data on the population of RCD patients being cared for in U.S. HTCs.

ATHN 10: Rare Coagulation Disorders Project is designed as a multi-center project in which the American Thrombosis and Hemostasis Network (ATHN) will offer free genetic testing to up to 1,300 individuals with rare coagulation disorders. Individuals who meet the following criteria are eligible to participate in the project:

• Have an established RCD diagnosis
• Currently receive or have received care at an ATHN-affiliated HTC
• Have opted into the ATHNdataset

In the initial phase of the project, we will be accepting samples for the diagnoses listed below:

• Bernard-Soulier syndrome
• Glanzmann thrombasthenia
• Factor I (Afibrinogenemia, Hypofibrinogenemia, Dysfibrinogenemia, Hypodysfibrinogenemia)
• Factor VII deficiency
• Factor XIII deficiency

The approximate duration of the study is 2 years. After consent and HIPAA authorization are signed, one blood sample will be collected at the HTC and sent to the CIBD for genetic testing. Details on the collection 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.