Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Study Start Date

1995-05-31

Brief Summary

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OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT).

II. Establish genotype-phenotype correlations in HHT. III. Create a database of information for researchers throughout the world.

Detailed Description

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PROTOCOL OUTLINE: Patients complete a self-administered natural history questionnaire in a multiple choice format. Questionnaire is completed by a population consisting of males and females of all ages and ethnic backgrounds.

Data are collected and made available to all researchers.

Conditions

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Hereditary Hemorrhagic Telangiectasia

Keywords

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genetic diseases and dysmorphic syndromes hematologic disorders hereditary hemorrhagic telangiectasia rare disease

Eligibility Criteria

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Inclusion Criteria

* Diagnosed hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) with recurrent epistaxis, telangiectases, and visceral vascular anomalies

Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Principal Investigators

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Alan Guttmacher

Role: STUDY_CHAIR

University of Vermont

Other Identifiers

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UVT-650

Identifier Type: -

Identifier Source: secondary_id

199/11712