Studies of Hereditary Hemorrhagic Telangiectasia
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|ClinicalTrials.gov Identifier: NCT00004648|
Recruitment Status : Completed
First Posted : February 25, 2000
Last Update Posted : June 24, 2005
|First Submitted Date||February 24, 2000|
|First Posted Date||February 25, 2000|
|Last Update Posted Date||June 24, 2005|
|Study Start Date||May 1996|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures||Not Provided|
|Original Primary Outcome Measures||Not Provided|
|Change History||No Changes Posted|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||Studies of Hereditary Hemorrhagic Telangiectasia|
|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|
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.
|Study Design||Primary Purpose: Screening|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition||Telangiectasia, Hereditary Hemorrhagic|
|Study Groups/Cohorts||Not Provided|
|Publications *||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Original Enrollment||Same as current|
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Ages||Child, Adult, Senior|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||Not Provided|
|Removed Location Countries|
|Other Study ID Numbers||199/11711
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor||National Center for Research Resources (NCRR)|
|Collaborators||University of Vermont|
|PRS Account||Office of Rare Diseases (ORD)|
|Verification Date||December 2001|