Registry and DNA Biorepository for Patients With Hereditary Antithrombin Deficiency

Phase: Recruiting

Condition(s): Hereditary Antithrombin Deficiency

Other Study ID Number(s): ISTH Database

What Is the Purpose of This Study?

  • To learn more about the natural history of this condition
  • To analyze genetic defects that can cause antithrombin deficiency and correlate with the natural history of the disease

Who Can Take Part in This Study?

  • Individuals ages 0-21 years with antithrombin deficiency
  • History of blot clots (thrombosis) and antithrombin deficiency
  • Individuals without history of thrombosis, with family history of antithrombin deficiency and known to have antithrombin deficiency

What Will Happen During This Study?

  • Office visit for history, physical exam and consent for participation.
  • During this visit, you will have about 5 mL (about 1 teaspoon) of blood drawn that will be saved at the biorepository for research purposes.

Principal Investigator

Vilmarie Rodriguez
MD

Hematology & Oncology

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