Institutional Registry of Haemorrhagic Hereditary Telangiectasia

December 16, 2015 updated by: Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires

The purpose of this study is to create an institutional and population-based registry of Haemorrhagic Hereditary Telangiectasia with a prospective survey based on epidemiological data, risk factors, diagnosis, prognosis, treatment, monitoring and survival.

This study will also describe the occurrence of Haemorrhagic Hereditary Telangiectasia in the population of HIBA in the Central Hospital, as well as the characteristics of clinical presentation and evolution.

Study Overview

Status

Unknown

Conditions

Detailed Description

Haemorrhagic Hereditary Telangiectasia is a uncommon autosomic hereditary disorder caracterizad for recurrent epistaxis,cutaneomucous telangiectasias and arteriovenous malformations in diferent organs; brain, lung, liver and gastrointestinal are more often afected . Afect one in 5000-8000 individual in worldwide. HHT may produce important morbidity like brain absces, stroke, hemoptisis and cronic ferropenic anemia.

Molecular mechanism of this disorder are complex and still no fully dilucidated. The genes mutated in HHT encode endothelial cell-expressed proteins that mediate signalling by the transforming growth factor (TGF)b superfamily. Endoglin (HHT type I) and ACVRL-1 (HHT type 2) mutations are responsible in more than 80% of the individuals. Mutation of SMAD 4 protein (MADH4)cause HHT in association with juvenile polyposis. HHT may associated with primary pulmonary hypertension en more rare cases.

There arent HHT register in Argentina and Latinamerican population. This registry may gader valious information in order to generate a better diagnosis and treatment of our population and others.

Study Type

Observational

Enrollment (Anticipated)

250

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients with Haemorrhagic Hereditary Telangiectasia

Description

Inclusion Criteria:

  1. Patients with HHT defined.
  2. Followed in Unidad HHT of Hospital Italiano de Buenos Aires.

Exclusion Criteria:

1. Denied to participated in the registry or inform consent process.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
morbidity
Time Frame: 1 year
Control visit every three month
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospital Italiano de Buenos Aires

Investigators

  • Principal Investigator: Marcelo M Serra, MD, HHT Center of Excelence Hospital Italiano de Buenos Aires

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2012

Primary Completion (ANTICIPATED)

June 1, 2017

Study Completion (ANTICIPATED)

December 1, 2017

Study Registration Dates

First Submitted

January 3, 2013

First Submitted That Met QC Criteria

January 3, 2013

First Posted (ESTIMATE)

January 7, 2013

Study Record Updates

Last Update Posted (ESTIMATE)

December 17, 2015

Last Update Submitted That Met QC Criteria

December 16, 2015

Last Verified

December 1, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1900

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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