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Institutional Registry of Haemorrhagic Hereditary Telangiectasia

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2015 by Hospital Italiano de Buenos Aires
Information provided by (Responsible Party):
Diego Hernan Giunta, MD, Hospital Italiano de Buenos Aires Identifier:
First received: January 3, 2013
Last updated: December 16, 2015
Last verified: December 2015

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.

Haemorrhagic Hereditary Telangiectasia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Institutional Registry of Haemorrhagic Hereditary Telangiectasia

Resource links provided by NLM:

Further study details as provided by Hospital Italiano de Buenos Aires:

Primary Outcome Measures:
  • morbidity [ Time Frame: 1 year ]
    Control visit every three month

Estimated Enrollment: 250
Study Start Date: June 2012
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Haemorrhagic Hereditary Telangiectasia

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01761981

Contact: Marcelo M Serra, MD +541149590200 ext 4419
Contact: Diego H Giunta, MD +541149590200 ext 4419

Hospital Italiano de Buenos Aires Recruiting
Buenos Aires, Argentina, 1081
Contact: Marcelo M Serra, MD    +541149590200 ext 4419   
Contact: Diego H Giunta, MD    +541149590200 ext 4419   
Sponsors and Collaborators
Hospital Italiano de Buenos Aires
Principal Investigator: Marcelo M Serra, MD HHT Center of Excelence Hospital Italiano de Buenos Aires
  More Information

Responsible Party: Diego Hernan Giunta, MD, Marcelo Martin Serra, Hospital Italiano de Buenos Aires Identifier: NCT01761981     History of Changes
Other Study ID Numbers: 1900
Study First Received: January 3, 2013
Last Updated: December 16, 2015

Keywords provided by Hospital Italiano de Buenos Aires:
Haemorrhagic Hereditary Telangiectasia
Rendu Osler Weber Syndrome
Osler Weber Rendu Syndrome

Additional relevant MeSH terms:
Vascular Diseases
Cardiovascular Diseases processed this record on May 24, 2017