Studies of Hereditary Hemorrhagic Telangiectasia

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.

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Key information

Conditions

Telangiectasia, Hereditary Hemorrhagic Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Telangiectasis Vascular Diseases Vascular Malformations

Age range

0 year and older

Sex eligibility

All sexes

Study type

Observational

About this study

PROTOCOL OUTLINE: Patients with hereditary hemorrhagic telangiectasia (HHT) undergo 5 different screening methods to determine which method is most effective in detecting arteriovenous malformations (AVM). Patients may participate in more than one screening method.

In part 1, patients undergo 3 different screening techniques (e.g., pulse oximetry, spiral computed tomography (CT), and contrast echocardiography) to detect pulmonary arteriovenous malformations (PAVM).

Patients in part 2 undergo magnetic resonance imaging (MRI) using gadolinium as the contrasting agent for AVM in the brain, known as cerebral arteriovenous malformations (CAVM). For pregnant women, this procedure may only take place if there is clinical evidence that suggests CAVM.

In part 3, Doppler ultrasound is used to screen for hepatic arteriovenous malformations (HAVM). The abdomen of each patient is viewed to detect AVM in the liver.

Patients in part 4 undergo echocardiograms as the screening method used to determine common heart valve abnormalities.

In part 5, blood samples are drawn from patients and analyzed to locate modifier genes as a possibility in determining severity of HHT.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Collaborators

University of Vermont

Registry information

Official study title

Studies of Hereditary Hemorrhagic Telangiectasia: Screening Methods for Pulmonary Arteriovenous Malformations; Prevalence of Pulmonary and Cerebral Arteriovenous Malformations; Prevalence of Cardiac Valve Abnormalities; and Identification of Modifier Genes

Important dates

Study start: 1996
First posted: Feb 25, 2000
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed