Studies of Hereditary Hemorrhagic Telangiectasia
|First Received Date ICMJE||February 24, 2000|
|Last Updated Date||June 23, 2005|
|Start Date ICMJE||May 1996|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00004648 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Studies of Hereditary Hemorrhagic Telangiectasia|
|Official Title ICMJE||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 Type ICMJE||Observational|
|Study Design ICMJE||Primary Purpose: Screening|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Telangiectasia, Hereditary Hemorrhagic|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||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.
|Recruitment Status ICMJE||Completed|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
|Accepts Healthy Volunteers||No|
|Contacts ICMJE||Contact information is only displayed when the study is recruiting subjects|
|Location Countries ICMJE||Not Provided|
|NCT Number ICMJE||NCT00004648|
|Other Study ID Numbers ICMJE||199/11711, UVT-651|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Center for Research Resources (NCRR)|
|Collaborators ICMJE||University of Vermont|
|Information Provided By||Office of Rare Diseases (ORD)|
|Verification Date||December 2001|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP