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Studies of Hereditary Hemorrhagic Telangiectasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004648
Recruitment Status : Completed
First Posted : February 25, 2000
Last Update Posted : June 24, 2005
University of Vermont
Information provided by:
Office of Rare Diseases (ORD)

Brief 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.

Condition or disease
Telangiectasia, Hereditary Hemorrhagic

Detailed Description:

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.

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Study Type : Observational
Enrollment : 65 participants
Official 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
Study Start Date : May 1996

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00004648

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of Vermont
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Study Chair: Alan Guttmacher University of Vermont
Layout table for additonal information Identifier: NCT00004648    
Other Study ID Numbers: 199/11711
First Posted: February 25, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2001
Keywords provided by Office of Rare Diseases (ORD):
genetic diseases and dysmorphic syndromes
hematologic disorders
hereditary hemorrhagic telangiectasia
rare disease
Osler-Rendu-Weber disease
Additional relevant MeSH terms:
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Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities