Studies of Hereditary Hemorrhagic Telangiectasia

Telangiectasia, Hereditary Hemorrhagic Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00004648
• Other study ID #: 199/11711
• Secondary ID: UVT-651
• Status: Completed
• Phase: N/A
• First received: February 24, 2000
• Last updated: June 23, 2005
• Start date: May 1996

Study information

• Verified date: December 2001
• Source: Office of Rare Diseases (ORD)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 65
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older
• Eligibility: - Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

• Arteriovenous Malformations
• Telangiectasia, Hereditary Hemorrhagic
• Telangiectasis

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
National Center for Research Resources (NCRR)	University of Vermont