NCT00004648

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
65

participants targeted

Target at P25-P50 for all trials

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 1996

Completed
3.8 years until next milestone

First Submitted

Initial submission to the registry

February 24, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

February 25, 2000

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 2001

First QC Date

February 24, 2000

Last Update Submit

June 23, 2005

Conditions

Telangiectasia, Hereditary Hemorrhagic

Keywords

genetic diseases and dysmorphic syndromeshematologic disordershereditary hemorrhagic telangiectasiarare diseaseOsler-Rendu-Weber disease

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
* Osler-Rendu-Weber disease (or hereditary hemorrhagic telangiectasia)

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

MeSH Terms

Conditions

Telangiectasia, Hereditary HemorrhagicGenetic Diseases, InbornHematologic DiseasesRare Diseases

Condition Hierarchy (Ancestors)

Hemostatic DisordersVascular DiseasesCardiovascular DiseasesTelangiectasisHemorrhagic DisordersHemic and Lymphatic DiseasesVascular MalformationsCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Alan Guttmacher

    University of Vermont

    STUDY CHAIR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

February 24, 2000

First Posted

February 25, 2000

Study Start

May 1, 1996

Last Updated

June 24, 2005

Record last verified: 2001-12