Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004648
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2000-02-24
Brief Title:
Studies of Hereditary Hemorrhagic Telangiectasia
Sponsor:
National Center for Research Resources NCRR
Organization:
Office of Rare Diseases ORD
Study Overview
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
Status:
COMPLETED
Status Verified Date:
2001-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 eg 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
In part 1 patients undergo 3 different screening techniques eg 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 Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| UVT-651 | None | None | None |