Studies of Hereditary Hemorrhagic Telangiectasia
NCT00004648 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 65
Last updated 2005-06-24
Summary
OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations.
II. Examine the prevalence of cerebral arteriovenous malformations (CAVM) in individuals with hereditary hemorrhagic telangiectasia (HHT).
III. Investigate whether modifier genes exist that determine which individuals with HHT due to an endoglin mutation develop PAVMs and which develop CAVMs.
IV. Investigate the frequency of cardiac valve abnormalities in individuals affected with HHT due to an endoglin mutations.
Conditions
- Telangiectasia, Hereditary Hemorrhagic
Sponsors & Collaborators
-
University of Vermont
collaborator OTHER -
National Center for Research Resources (NCRR)
lead NIH
Principal Investigators
-
Alan Guttmacher · University of Vermont
Eligibility
- Min Age
- 0 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 1996-05-31
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