Studies of Hereditary Hemorrhagic Telangiectasia
Primary Purpose
Telangiectasia, Hereditary Hemorrhagic
Status
Completed
Phase
Locations
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Telangiectasia, Hereditary Hemorrhagic focused on measuring genetic diseases and dysmorphic syndromes, hematologic disorders, hereditary hemorrhagic telangiectasia, rare disease, Osler-Rendu-Weber disease
Eligibility Criteria
Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00004648
First Posted
February 24, 2000
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of Vermont
1. Study Identification
Unique Protocol Identification Number
NCT00004648
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
Study Type
Observational
2. Study Status
Record Verification Date
December 2001
Overall Recruitment Status
Completed
Study Start Date
May 1996 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of Vermont
4. Oversight
5. Study Description
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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Telangiectasia, Hereditary Hemorrhagic
Keywords
genetic diseases and dysmorphic syndromes, hematologic disorders, hereditary hemorrhagic telangiectasia, rare disease, Osler-Rendu-Weber disease
7. Study Design
Enrollment
65 (false)
10. Eligibility
Sex
All
Minimum Age & Unit of Time
0 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Alan Guttmacher
Organizational Affiliation
University of Vermont
Official's Role
Study Chair
12. IPD Sharing Statement
Learn more about this trial
Studies of Hereditary Hemorrhagic Telangiectasia
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