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| Sponsors and Collaborators: |
National Center for Research Resources (NCRR) University of Vermont |
|---|---|
| Information provided by: | Office of Rare Diseases (ORD) |
| ClinicalTrials.gov Identifier: | NCT00004648 |
Purpose
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.
| Condition |
|---|
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Telangiectasia, Hereditary Hemorrhagic |
| Study Type: | Observational |
| Study Design: | Screening |
| 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 |
| Estimated Enrollment: | 65 |
| Study Start Date: | May 1996 |
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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
- Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)
Contacts and Locations More Information
| Study ID Numbers: | 199/11711, UVT-651 |
| Study First Received: | February 24, 2000 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00004648 History of Changes |
| Health Authority: | United States: Federal Government |
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genetic diseases and dysmorphic syndromes hematologic disorders hereditary hemorrhagic telangiectasia rare disease Osler-Rendu-Weber disease |
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Pulmonary Arteriovenous Malformation Cardiovascular Abnormalities Nervous System Malformations Telangiectasia, Hereditary Hemorrhagic Hematologic Diseases Intracranial Arteriovenous Malformations Blood Coagulation Disorders Rare Diseases Vascular Diseases Central Nervous System Diseases |
Brain Diseases Hemostatic Disorders Intracranial Arterial Diseases Cerebrovascular Disorders Hemorrhagic Disorders Telangiectasis Vascular Malformations Arteriovenous Malformations Hereditary Hemorrhagic Telangiectasia Congenital Abnormalities |
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Cardiovascular Abnormalities Nervous System Malformations Telangiectasia, Hereditary Hemorrhagic Intracranial Arteriovenous Malformations Hematologic Diseases Central Nervous System Vascular Malformations Nervous System Diseases Vascular Diseases Central Nervous System Diseases Brain Diseases |
Hemostatic Disorders Intracranial Arterial Diseases Cerebrovascular Disorders Hemorrhagic Disorders Telangiectasis Vascular Malformations Arteriovenous Malformations Cardiovascular Diseases Congenital Abnormalities |
