Hemorrhagic Telangiectasia and Vascular Malformations Registry

Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Registry and Sample Repository

Protocol Description

Through this study, researchers will be collecting information and building a database registry about patients with hereditary hemorrhagic telangiectasia (HHT) and inherited vascular malformations. By studying information in the database, researchers hope to learn more about these diseases. Specifically, researchers will consider how factors such as a person’s genetic make-up, dietary choices, and environmental exposures combine to influence disease progression. They may also be able to identify clinical trials of potential interest to patients enrolled in the registry.

Eligibility Criteria

This study is open to patients of all ages who are seen at the HHT Center of Excellence of UPMC and the University of Pittsburgh.
Males and Females: All ages


Participants or their parent/guardian will be asked to complete quality-of-life questionnaires. Blood and saliva samples will be collected from participants. Although no tissue samples will be collected solely for this research, biological samples remaining from other medical procedures enrolled patients undergo may be included in the study repository.
Visits: None beyond routine visits for the patient’s condition
Duration: Not applicable

Status: Enrolling by Invitation

Primary Investigator

Christopher Faber, MD

Contact Information

For more information about the study or enrollment, please contact:
Jennifer Baker, MA