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Studies of Hereditary Hemorrhagic Telangiectasia

This study has been completed.
Sponsor:
Collaborator:
University of Vermont
Information provided by:
Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:
NCT00004648
First received: February 24, 2000
Last updated: June 23, 2005
Last verified: December 2001

February 24, 2000
June 23, 2005
May 1996
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Complete list of historical versions of study NCT00004648 on ClinicalTrials.gov Archive Site
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Studies of Hereditary Hemorrhagic Telangiectasia
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

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.

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.

Observational
Primary Purpose: Screening
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Telangiectasia, Hereditary Hemorrhagic
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
65
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  • Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)
Both
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No
Contact information is only displayed when the study is recruiting subjects
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NCT00004648
199/11711, UVT-651
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National Center for Research Resources (NCRR)
University of Vermont
Study Chair: Alan Guttmacher University of Vermont
Office of Rare Diseases (ORD)
December 2001

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP