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NCT Number: NCT01761981

Institutional Registry of Haemorrhagic Hereditary Telangiectasia

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.

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Key information

Conditions

Haemorrhagic Hereditary Telangiectasia Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Telangiectasia, Hereditary Hemorrhagic Telangiectasis Vascular Diseases Vascular Malformations

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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 are not HHT registry 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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. morbidity

    Time frame: 1 year

    Control visit every three month

Study contacts

Contact information is provided by the study sponsor or research team.

Diego H Giunta, MD

CONTACT

[email protected]

+541149590200 ext. 4419

Marcelo M Serra, MD

CONTACT

[email protected]

+541149590200 ext. 4419

Sponsors and collaborators

Lead sponsor

Hospital Italiano de Buenos Aires

Other

Registry information

Important dates

Study start
2010
Primary completion
2025
Study completion
2035
First posted
Jan 7, 2013
Registry last updated
Jul 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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